Y54H (p.Tyr54His) variant of SH2D1A (SH2 domain-containing protein 1A)
Y54H (p.Tyr54His) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- gnomAD X-124365783-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.92
- MetaLR 0.85
- MetaSVM 0.88
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available