K41N (p.Lys41Asn) variant of KCNE1 (P15382)
K41N (p.Lys41Asn) 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; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K41N (p.Lys41Asn) variant details
- p.Lys41Asn
- rs763754260
- ClinGen CA10583883
- ClinVar RCV000230619
- ClinVar RCV000620863
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 5.50
- PolyPhen-2 0.08
- SIFT 0.46
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.08
- 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)