V30M (p.Val30Met) variant of PIK3R2 (O00459)
V30M (p.Val30Met) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- ExAC rs776879214
- gnomAD rs776879214
- Missense
- Variant Prioritization Score for Impact Estimate 0.0837
- REVEL 0.04
- CADD 10.20
- PolyPhen-2 0.05
- SIFT 0.10
- Population evidence available
- Structural context available