R25P (p.Arg25Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R25P (p.Arg25Pro) 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 Conduction disorder of the heart; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R25P (p.Arg25Pro) variant details
- p.Arg25Pro
- rs1589884210
- ClinGen CA379116049
- ClinVar RCV000845349
- ClinVar RCV001858456
- Uncertain significance
- Conduction disorder of the heart; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.94
- MetaSVM 0.96
- CADD 24.10
- ClinVar: Uncertain significance (Conduction disorder of the heart; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- 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)