V43M (p.Val43Met) variant of AQP3 (Aquaporin-3)
V43M (p.Val43Met) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs34942735
- UniProt VAR 025089
- 1000Genomes rs34942735
- ESP rs34942735
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.26
- CADD 24.90
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available