R104L (p.Arg104Leu) variant of PIK3CD (O00329)
R104L (p.Arg104Leu) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R104L (p.Arg104Leu) variant details
- p.Arg104Leu
- ExAC rs776273008
- TOPMed rs776273008
- gnomAD rs776273008
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available