P27H (p.Pro27His) variant of PIK3R2 (O00459)
P27H (p.Pro27His) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- gnomAD 19-18155959-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.17
- CADD 26.00
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available