A32V (p.Ala32Val) variant of AQP1 (Aquaporin-1)
A32V (p.Ala32Val) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs552531843
- gnomAD 7-30921714-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 5.93
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Literature evidence available