Y52H (p.Tyr52His) variant of SH2D1A (SH2 domain-containing protein 1A)
Y52H (p.Tyr52His) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y52H (p.Tyr52His) variant details
- p.Tyr52His
- gnomAD X-124365777-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.57
- MetaLR 0.73
- MetaSVM 0.43
- CADD 24.60
- PolyPhen-2 0.87
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available