V46V (p.Val46Val) variant of AQP1 (Aquaporin-1)
V46V (p.Val46Val) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V46V (p.Val46Val) variant details
- p.Val46Val
- gnomAD 7-30912047-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.52
- Population evidence available
- Structural context available
- Literature evidence available