Y50F (p.Tyr50Phe) variant of SH2D1A (SH2 domain-containing protein 1A)
Y50F (p.Tyr50Phe) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Y50F (p.Tyr50Phe) variant details
- p.Tyr50Phe
- gnomAD X-124365772-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.28
- MetaLR 0.38
- MetaSVM -0.55
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.93
- Population evidence available
- Structural context available
- Literature evidence available