V47I (p.Val47Ile) variant of KCNE1 (P15382)
V47I (p.Val47Ile) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- rs199473353
- ClinGen CA320425428
- cosmic curated COSV61607
- ClinVar RCV000631784
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.31
- MetaSVM -0.64
- CADD 11.90
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign (in JLNS2)
- UniProt: Benign (in JLNS2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00029)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.41
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)