V39F (p.Val39Phe) variant of AQP1 (Aquaporin-1)
V39F (p.Val39Phe) 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.
V39F (p.Val39Phe) variant details
- p.Val39Phe
- rs1464135558
- gnomAD 7-30921731-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 2.53
- SIFT 0.01
- Most common in the East Asian population (allele frequency 8.4e-05)
- Structural context available
- Literature evidence available