V25E (p.Val25Glu) variant of AQP1 (Aquaporin-1)
V25E (p.Val25Glu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
V25E (p.Val25Glu) variant details
- p.Val25Glu
- rs963825730
- gnomAD 7-30921684-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0453
- CADD 0.21
- SIFT 0.08
- Most common in the South Asian population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available