G62S (p.Gly62Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
G62S (p.Gly62Ser) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G62S (p.Gly62Ser) variant details
- p.Gly62Ser
- gnomAD X-124365807-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.84
- MetaLR 0.96
- MetaSVM 1.09
- CADD 26.70
- PolyPhen-2 0.84
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available