R14S (p.Arg14Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R14S (p.Arg14Ser) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- gnomAD rs199473444
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.92
- MetaSVM 0.64
- CADD 17.90
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available