V50V (p.Val50Val) variant of AQP1 (Aquaporin-1)
V50V (p.Val50Val) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V50V (p.Val50Val) variant details
- p.Val50Val
- gnomAD 7-30912059-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available