N133K (p.Asn133Lys) variant of AQP3 (Aquaporin-3)
N133K (p.Asn133Lys) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N133K (p.Asn133Lys) variant details
- p.Asn133Lys
- ESP rs372392094
- ExAC rs372392094
- TOPMed rs372392094
- gnomAD rs372392094
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.10
- CADD 8.47
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available