V69M (p.Val69Met) variant of KCNE2 (Q9Y6J6)
V69M (p.Val69Met) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V69M (p.Val69Met) variant details
- p.Val69Met
- rs542835031
- ClinGen CA301992
- ClinVar RCV000170961
- ClinVar RCV004020036
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.74
- MetaLR 0.85
- MetaSVM 0.82
- CADD 27.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available