R52C (p.Arg52Cys) variant of PIK3CD (O00329)
R52C (p.Arg52Cys) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R52C (p.Arg52Cys) variant details
- p.Arg52Cys
- TOPMed rs1375117381
- gnomAD rs1375117381
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.42
- CADD 26.60
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available