V15M (p.Val15Met) variant of AQP1 (Aquaporin-1)
V15M (p.Val15Met) in AQP1 (Aquaporin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- rs777773161
- ExAC rs777773161
- gnomAD rs777773161
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.45
- MetaLR 0.56
- MetaSVM 0.12
- CADD 25.10
- PolyPhen-2 0.72
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available