R38R (p.Arg38Arg) variant of PIK3CD (O00329)
R38R (p.Arg38Arg) in PIK3CD (O00329) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R38R (p.Arg38Arg) variant details
- p.Arg38Arg
- rs767121276
- gnomAD 1-9710569-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 9.84
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available