A23V (p.Ala23Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A23V (p.Ala23Val) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs2496740897
- ClinGen CA379116026
- ClinVar RCV003029898
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.87
- CADD 19.60
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)