A2V (p.Ala2Val) variant of PIK3R2 (O00459)
A2V (p.Ala2Val) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs978235304
- gnomAD rs978235304
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.12
- CADD 23.40
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Structural context available