Q93H (p.Gln93His) variant of PIK3CD (O00329)
Q93H (p.Gln93His) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q93H (p.Gln93His) variant details
- p.Gln93His
- gnomAD 1-9715678-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.43
- MetaLR 0.33
- MetaSVM -0.32
- CADD 24.50
- PolyPhen-2 0.72
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available