V30G (p.Val30Gly) variant of PIK3R2 (O00459)
V30G (p.Val30Gly) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V30G (p.Val30Gly) variant details
- p.Val30Gly
- gnomAD 19-18155968-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.19
- CADD 24.20
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available