V39I (p.Val39Ile) variant of AQP1 (Aquaporin-1)
V39I (p.Val39Ile) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- rs1464135558
- gnomAD 7-30921731-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 3.06
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available