R36C (p.Arg36Cys) variant of KCNE1 (P15382)
R36C (p.Arg36Cys) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- rs372398235
- ClinGen CA320425481
- cosmic curated COSV10049
- ClinVar RCV000619059
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.34
- MetaSVM -0.66
- CADD 9.48
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Likely benign (in LQT5)
- UniProt: Likely benign (in LQT5)
- Most common in the Latino/Admixed American population (allele frequency 0.00023)
- 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)