V7V (p.Val7Val) variant of PKD2 (Polycystin-2)
V7V (p.Val7Val) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V7V (p.Val7Val) variant details
- p.Val7Val
- rs1242420595
- gnomAD 4-88007754-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 10.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available