Y52C (p.Tyr52Cys) variant of SH2D1A (SH2 domain-containing protein 1A)
Y52C (p.Tyr52Cys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y52C (p.Tyr52Cys) variant details
- p.Tyr52Cys
- gnomAD X-124365778-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.70
- MetaLR 0.77
- MetaSVM 0.51
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available