Q47R (p.Gln47Arg) variant of PIK3CD (O00329)
Q47R (p.Gln47Arg) 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.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- gnomAD 1-9710595-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.17
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available