Y47H (p.Tyr47His) variant of SH2D1A (SH2 domain-containing protein 1A)
Y47H (p.Tyr47His) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Y47H (p.Tyr47His) variant details
- p.Tyr47His
- gnomAD X-124365762-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.27
- MetaLR 0.36
- MetaSVM -0.50
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available