V8M (p.Val8Met) variant of AQP5 (Aquaporin-5)
V8M (p.Val8Met) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- ExAC rs758120085
- TOPMed rs758120085
- gnomAD rs758120085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.14
- CADD 2.09
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available