R20W (p.Arg20Trp) variant of AQP3 (Aquaporin-3)
R20W (p.Arg20Trp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- TOPMed rs1442989277
- gnomAD rs1442989277
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.43
- CADD 27.70
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available