G6V (p.Gly6Val) variant of PIK3R2 (O00459)
G6V (p.Gly6Val) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 19-18155896-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.23
- CADD 24.40
- PolyPhen-2 0.27
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available