K5R (p.Lys5Arg) variant of AQP3 (Aquaporin-3)
K5R (p.Lys5Arg) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- ExAC rs765311734
- TOPMed rs765311734
- gnomAD rs765311734
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.29
- CADD 24.80
- PolyPhen-2 0.78
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available