Table 2.
Mutation information
| Genome-level consequence | Gene | Gene-level consequence | |||
|---|---|---|---|---|---|
| NC_000016.9:g.3573261C>T | CLUAP1 |
NM_024793:c.319C>T:p.L107F NM_015041:c.817C>T:p.L273F |
|||
| In silico nonsynonymous mutation deleteriousness prediction algorithms and corresponding predictions | |||||
| SIFT | Polyphen2 HDIV | Polyphen2 HVAR | LRT | MutationTaster | MutationAssessor |
| Damaging | Damaging | Damaging | Damaging | Damaging | Medium impact |
| FATHMM | MetaSVM | MetaLR | VEST3 | PROVEAN | CADD |
| Tolerated | Damaging | Damaging | Damaging | Damaging | Damaging |
| Frequency of variant in large-scale population studies (mutant allele count/total alleles) | |||||
| 1000 Genomes Project | Human Genetic Variation Database | Exome Aggregation Consortium | CHARGE | ||
| 0 (0/5,008) | 0 (0/2,416) | 0.0008% (1/121,086) | 0 (0/21,880) | ||