R104H (p.Arg104His) variant of PIK3CD (O00329)
R104H (p.Arg104His) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R104H (p.Arg104His) variant details
- p.Arg104His
- ExAC rs776273008
- TOPMed rs776273008
- gnomAD rs776273008
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.61
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available