Y52F (p.Tyr52Phe) variant of SH2D1A (SH2 domain-containing protein 1A)
Y52F (p.Tyr52Phe) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Y52F (p.Tyr52Phe) variant details
- p.Tyr52Phe
- gnomAD X-124365778-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.58
- MetaLR 0.76
- MetaSVM 0.44
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available