V41V (p.Val41Val) variant of AQP2 (Aquaporin-2)
V41V (p.Val41Val) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V41V (p.Val41Val) variant details
- p.Val41Val
- gnomAD 12-49950953-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 6.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available