V86M (p.Val86Met) variant of AQP3 (Aquaporin-3)
V86M (p.Val86Met) in AQP3 (Aquaporin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
V86M (p.Val86Met) variant details
- p.Val86Met
- rs778133652
- ClinGen CA5026458
- cosmic curated COSV53048
- ClinVar RCV004085571
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.90
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available