Q75H (p.Gln75His) variant of PIK3CD (O00329)
Q75H (p.Gln75His) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q75H (p.Gln75His) variant details
- p.Gln75His
- gnomAD 1-9715624-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.24
- MetaLR 0.39
- MetaSVM -0.37
- CADD 19.70
- PolyPhen-2 0.07
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available