K34R (p.Lys34Arg) variant of AQP5 (Aquaporin-5)
K34R (p.Lys34Arg) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- TOPMed rs1351853699
- gnomAD rs1351853699
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.08
- CADD 7.92
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available