Y50C (p.Tyr50Cys) variant of SH2D1A (SH2 domain-containing protein 1A)
Y50C (p.Tyr50Cys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y50C (p.Tyr50Cys) variant details
- p.Tyr50Cys
- gnomAD X-124365772-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.57
- MetaLR 0.58
- MetaSVM 0.10
- CADD 23.60
- PolyPhen-2 0.80
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available