V14M (p.Val14Met) variant of AQP1 (Aquaporin-1)
V14M (p.Val14Met) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- rs537605954
- gnomAD 7-30921635-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.38
- SIFT 1.00
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available