S65G (p.Ser65Gly) variant of SH2D1A (SH2 domain-containing protein 1A)
S65G (p.Ser65Gly) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S65G (p.Ser65Gly) variant details
- p.Ser65Gly
- gnomAD X-124365816-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.51
- MetaLR 0.87
- MetaSVM 0.87
- CADD 24.30
- PolyPhen-2 0.09
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available