R14C (p.Arg14Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R14C (p.Arg14Cys) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs199473444
- ClinGen CA007029
- ClinVar RCV000057672
- gnomAD rs199473444
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- ESM-1b 0.35
- AlphaMissense 0.22
- MetaLR 0.94
- MetaSVM 0.75
- CADD 23.50
- ClinVar: not provided (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available