R33G (p.Arg33Gly) variant of KCNE1 (P15382)
R33G (p.Arg33Gly) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- rs2516764659
- ClinGen CA410198485
- ClinVar RCV003648462
- ClinVar RCV004780617
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.50
- PolyPhen-2 0.32
- SIFT 0.22
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.43
- 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)