R52R (p.Arg52Arg) variant of PIK3CD (O00329)
R52R (p.Arg52Arg) in PIK3CD (O00329) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R52R (p.Arg52Arg) variant details
- p.Arg52Arg
- rs558577650
- gnomAD 1-9715555-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0886
- CADD 1.12
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available