V46G (p.Val46Gly) variant of AQP1 (Aquaporin-1)
V46G (p.Val46Gly) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V46G (p.Val46Gly) variant details
- p.Val46Gly
- gnomAD 7-30912046-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- MetaLR 0.26
- MetaSVM -0.88
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available