R36H (p.Arg36His) variant of KCNE1 (P15382)
R36H (p.Arg36His) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of KCNE1-related disorder; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs199473351
- ClinGen CA331911
- cosmic curated COSV61607
- ClinVar RCV000119062
- Conflicting interpretations
- KCNE1-related disorder; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.86
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (KCNE1-related disorder; Cardiovascular phenotype; not specified)
- 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
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.22
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)