P4H (p.Pro4His) variant of PIK3R2 (O00459)
P4H (p.Pro4His) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P4H (p.Pro4His) variant details
- p.Pro4His
- gnomAD 19-18155890-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.09
- CADD 19.90
- PolyPhen-2 0.13
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available