R36G (p.Arg36Gly) variant of KCNE1 (P15382)
R36G (p.Arg36Gly) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes experimental measurements, published literature, and structural context.
R36G (p.Arg36Gly) variant details
- p.Arg36Gly
- rs372398235
- ClinGen CA320425480
- ClinVar RCV001931289
- ClinVar RCV004779205
- Conflicting interpretations
- Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.34
- MetaSVM -0.66
- MutPred 0.25
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome; Cardiovascular phenotype)
- EBI: Likely benign (in LQT5)
- UniProt: Likely benign (in LQT5)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.22
- 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)