K6R (p.Lys6Arg) variant of AQP1 (Aquaporin-1)
K6R (p.Lys6Arg) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- ExAC rs754247100
- TOPMed rs754247100
- gnomAD rs754247100
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.20
- MetaLR 0.36
- MetaSVM -0.60
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available