V102V (p.Val102Val) variant of PIK3CD (O00329)
V102V (p.Val102Val) in PIK3CD (O00329) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V102V (p.Val102Val) variant details
- p.Val102Val
- rs1376334251
- gnomAD 1-9715705-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 13.30
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available