A300S (p.Ala300Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A300S (p.Ala300Ser) 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 Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A300S (p.Ala300Ser) variant details
- p.Ala300Ser
- rs120074187
- ClinGen CA379131697
- ClinVar RCV001842731
- ExAC rs120074187
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.91
- MetaSVM 0.94
- CADD 26.00
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance (in LQT1)
- UniProt: Uncertain significance (in LQT1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available