Table 2.
Prediction of KLB variant pathogenicity through various gene variant interpretation tools.
| KLB variant | SIFT | Poly-Phen | CADD | REVEL | MetaLR | Mutation Assessor |
|---|---|---|---|---|---|---|
| Ser9Tyr | Deleterious – low confidence | Possibly damaging |
Likely benign | Likely benign | Tolerated | Low |
| Arg309Trp | Deleterious | Probably damaging |
Likely benign | Likely benign | Tolerated | Medium |
| Arg309Gln | Tolerated | Benign | Likely benign |
Likely benign | Tolerated | Low |
| Arg424Cys | Tolerated | Possibly damaging | Likely benign |
Likely benign | Tolerated | Low |
| Ala574Thr | Tolerated | Possibly damaging | Likely benign |
Likely benign | Tolerated | Low |
| Arg728Gln | Tolerated | Benign | Likely benign |
Likely benign | Tolerated | Low |
| Lys815Glu | Deleterious | Possibly damaging | Likely benign |
Likely benign | Tolerated | High |
| Leu1011Pro | Deleterious | Possibly damaging | Likely benign |
Likely benign | Tolerated | Medium |
SIFT, Sorting Intolerant From Tolerant tool; Poly-Phen, Polymorphism Phenotyping v2 tool; CADD, Combined Annotation Dependent Depletion tool; REVEL, Rare Exome Variant Ensemble Learner.