G62D (p.Gly62Asp) variant of SH2D1A (SH2 domain-containing protein 1A)
G62D (p.Gly62Asp) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G62D (p.Gly62Asp) variant details
- p.Gly62Asp
- gnomAD X-124365808-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.77
- MetaLR 0.93
- MetaSVM 1.06
- CADD 22.90
- PolyPhen-2 0.22
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available