V65E (p.Val65Glu) variant of KCNE2 (Q9Y6J6)
V65E (p.Val65Glu) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V65E (p.Val65Glu) variant details
- p.Val65Glu
- gnomAD rs1217144700
- Uncertain significance
- in LQT6
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.85
- CADD 27.40
- EBI: uncertain significance (in LQT6)
- UniProt: Uncertain significance (in LQT6)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available