R50W (p.Arg50Trp) variant of AQP3 (Aquaporin-3)
R50W (p.Arg50Trp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R50W (p.Arg50Trp) variant details
- p.Arg50Trp
- cosmic curated COSV53048
- ExAC rs749513194
- TOPMed rs749513194
- gnomAD rs749513194
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.13
- CADD 23.50
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available