S57Y (p.Ser57Tyr) variant of SH2D1A (SH2 domain-containing protein 1A)
S57Y (p.Ser57Tyr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S57Y (p.Ser57Tyr) variant details
- p.Ser57Tyr
- gnomAD X-124365793-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.46
- MetaLR 0.35
- MetaSVM -0.27
- CADD 15.40
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available