Table 2.
Characteristics and analysis of the variants detected.
| Variant Description | ||
|---|---|---|
| Variant (GRCh38) | NC_000011.10:g.14878291G>A | NC_000011.10:g.14878336T>G |
| NM_024514.5 | c.1337G>A (p.Arg446Lys) |
c.1331-39T>G |
| Variant type | Missense variant | Intron variant |
| Bioinformatic Analysis | ||
| SIFT score | 0.0 (deleterious) | - |
| PolyPhen score | 1.0 (probably damaging) | - |
| SpliceAI DS (bp) | ||
| acceptor loss | 0.25 (6 bp) | 0.04 (−39 bp) |
| donor loss | 0.00 (−36 bp) | 0.00 (2 bp) |
| acceptor gain | 0.00 (−31 bp) | 0.00 (4 bp) |
| donor gain | 0.00 (47 bp) | 0.00 (−2 bp) |
Abbreviations: bp—base pair; GRCh38—Genome Reference Consortium Human Build 38; SIFT—Scale Invariant Feature Transform; SpliceAI DS—SpliceAI delta score; PolyPhen—Polymorphism Phenotyping v2.