R104G (p.Arg104Gly) variant of PIK3CD (O00329)
R104G (p.Arg104Gly) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R104G (p.Arg104Gly) variant details
- p.Arg104Gly
- gnomAD 1-9715709-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.58
- MetaLR 0.62
- MetaSVM 0.25
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available