Q80R (p.Gln80Arg) variant of PIK3CD (O00329)
Q80R (p.Gln80Arg) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q80R (p.Gln80Arg) variant details
- p.Gln80Arg
- gnomAD 1-9715638-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.36
- MetaLR 0.31
- MetaSVM -0.40
- CADD 25.70
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available