R100R (p.Arg100Arg) variant of PIK3CD (O00329)
R100R (p.Arg100Arg) in PIK3CD (O00329) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R100R (p.Arg100Arg) variant details
- p.Arg100Arg
- gnomAD 1-9715699-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available