G40S (p.Gly40Ser) variant of KCNE1 (P15382)
G40S (p.Gly40Ser) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G40S (p.Gly40Ser) variant details
- p.Gly40Ser
- rs778439872
- ClinGen CA320425458
- ClinVar RCV000631757
- ClinVar RCV001461605
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.12
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Long QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.36
- 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)