A178P (p.Ala178Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A178P (p.Ala178Pro) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiac arrhythmia; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A178P (p.Ala178Pro) variant details
- p.Ala178Pro
- rs120074177
- ClinGen CA007364
- ClinVar RCV000003260
- ClinVar RCV000057693
- Pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Structural context available
- Cited in: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PMID 8528244)
- Cited in: Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. (PMID 9323054)