R100L (p.Arg100Leu) variant of PIK3CD (O00329)
R100L (p.Arg100Leu) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R100L (p.Arg100Leu) variant details
- p.Arg100Leu
- ExAC rs766022415
- gnomAD rs766022415
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.60
- CADD 26.20
- PolyPhen-2 0.59
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available