M59V (p.Met59Val) variant of KCNE2 (Q9Y6J6)
M59V (p.Met59Val) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M59V (p.Met59Val) variant details
- p.Met59Val
- ExAC rs770739581
- TOPMed rs770739581
- gnomAD rs770739581
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.70
- MetaSVM 0.49
- CADD 23.30
- ClinVar: Uncertain significance (Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available