I29V (p.Ile29Val) variant of AQP1 (Aquaporin-1)
I29V (p.Ile29Val) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I29V (p.Ile29Val) variant details
- p.Ile29Val
- TOPMed rs1278450967
- gnomAD rs1278450967
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.50
- MetaLR 0.68
- MetaSVM 0.10
- CADD 23.30
- PolyPhen-2 0.93
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available