V14A (p.Val14Ala) variant of AQP1 (Aquaporin-1)
V14A (p.Val14Ala) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- gnomAD 7-30921636-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0618
- CADD 2.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available