V14L (p.Val14Leu) variant of AQP1 (Aquaporin-1)
V14L (p.Val14Leu) 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.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- rs537605954
- gnomAD 7-30921635-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0442
- CADD 0.32
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available