W17R (p.Trp17Arg) variant of KCNE1 (P15382)
W17R (p.Trp17Arg) 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 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W17R (p.Trp17Arg) variant details
- p.Trp17Arg
- rs1469858578
- ClinGen CA410198582
- ClinVar RCV003648301
- ClinVar RCV004780612
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.46
- CADD 23.20
- PolyPhen-2 0.48
- SIFT 0.22
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.35
- 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)