K12R (p.Lys12Arg) variant of AQP5 (Aquaporin-5)
K12R (p.Lys12Arg) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- ExAC rs746804140
- TOPMed rs746804140
- gnomAD rs746804140
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.15
- CADD 5.01
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available