K7R (p.Lys7Arg) variant of AQP1 (Aquaporin-1)
K7R (p.Lys7Arg) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- rs755354795
- ClinGen CA4208025
- ClinVar RCV004276080
- ExAC rs755354795
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.31
- MetaLR 0.44
- MetaSVM -0.35
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available