G22R (p.Gly22Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G22R (p.Gly22Arg) 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 Long QT syndrome; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs794728545
- ClinGen CA007829
- ClinVar RCV000182244
- ClinVar RCV000794582
- Uncertain significance
- Long QT syndrome; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.88
- MetaSVM 0.85
- CADD 22.80
- ClinVar: Uncertain significance (Long QT syndrome; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)