R14L (p.Arg14Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R14L (p.Arg14Leu) 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 Jervell and Lange-Nielsen syndrome 1; Atrial fibrillation, familial, 3; Short QT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- rs1424013094
- ClinGen CA16622147
- ClinVar RCV000992240
- ClinVar RCV001107181
- Uncertain significance
- Jervell and Lange-Nielsen syndrome 1; Atrial fibrillation, familial, 3; Short QT
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.93
- MetaSVM 0.73
- CADD 20.40
- ClinVar: Uncertain significance (Jervell and Lange-Nielsen syndrome 1; Atrial fibrillation, famil)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)