G64V (p.Gly64Val) variant of PIK3CD (O00329)
G64V (p.Gly64Val) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G64V (p.Gly64Val) variant details
- p.Gly64Val
- gnomAD 1-9715590-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.76
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available