V33A (p.Val33Ala) variant of PIK3R2 (O00459)
V33A (p.Val33Ala) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V33A (p.Val33Ala) variant details
- p.Val33Ala
- gnomAD 19-18155977-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.27
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available