R32C (p.Arg32Cys) variant of KCNE1 (P15382)
R32C (p.Arg32Cys) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs200963514
- ClinGen CA236728
- cosmic curated COSV61606
- ClinVar RCV000171659
- Uncertain significance
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.78
- ESM-1b 0.18
- AlphaMissense 0.15
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT5)
- UniProt: Uncertain significance (in LQT5)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- 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)