R100C (p.Arg100Cys) variant of PIK3CD (O00329)
R100C (p.Arg100Cys) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R100C (p.Arg100Cys) variant details
- p.Arg100Cys
- gnomAD 1-9715697-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.57
- MetaLR 0.48
- MetaSVM -0.04
- CADD 28.70
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available