Q8H (p.Gln8His) variant of PIK3R2 (O00459)
Q8H (p.Gln8His) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- gnomAD 19-18155903-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.15
- CADD 23.30
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available