V205M (p.Val205Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
V205M (p.Val205Met) 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; Congenital long QT syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V205M (p.Val205Met) variant details
- p.Val205Met
- rs151344631
- ClinGen CA007777
- ClinVar RCV000030815
- ClinVar RCV000057723
- Pathogenic
- Cardiac arrhythmia; Congenital long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.90
- ClinVar: Pathogenic (Cardiac arrhythmia; Congenital long QT syndrome; Cardiovascular)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Normalized currents of 62 KCNQ1 missense SNVs in the homozygous state.: score 0.0662
- Cited in: A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British… (PMID 18580685)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)