V25A (p.Val25Ala) variant of AQP1 (Aquaporin-1)
V25A (p.Val25Ala) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
V25A (p.Val25Ala) variant details
- p.Val25Ala
- rs963825730
- gnomAD 7-30921684-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0423
- CADD 0.27
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available