N133S (p.Asn133Ser) variant of AQP3 (Aquaporin-3)
N133S (p.Asn133Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N133S (p.Asn133Ser) variant details
- p.Asn133Ser
- ExAC rs748446670
- TOPMed rs748446670
- gnomAD rs748446670
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.15
- CADD 20.50
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available