R9K (p.Arg9Lys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9K (p.Arg9Lys) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- TOPMed rs1469698360
- gnomAD rs1469698360
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.89
- MetaSVM 0.77
- CADD 13.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available