A46V (p.Ala46Val) variant of AQP5 (Aquaporin-5)
A46V (p.Ala46Val) in AQP5 (Aquaporin-5) 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 0.57 / 1. The record also includes population frequency data and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- ESP rs199524477
- ExAC rs199524477
- TOPMed rs199524477
- gnomAD rs199524477
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.43
- CADD 23.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available