N141S (p.Asn141Ser) variant of AQP3 (Aquaporin-3)
N141S (p.Asn141Ser) in AQP3 (Aquaporin-3) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
N141S (p.Asn141Ser) variant details
- p.Asn141Ser
- ExAC rs780717697
- TOPMed rs780717697
- gnomAD rs780717697
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.35
- CADD 22.50
- PolyPhen-2 0.21
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available