V39L (p.Val39Leu) variant of AQP1 (Aquaporin-1)
V39L (p.Val39Leu) 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.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- rs1464135558
- gnomAD 7-30921731-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 2.66
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available