A39G (p.Ala39Gly) variant of KCNE2 (Q9Y6J6)
A39G (p.Ala39Gly) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- rs767031659
- ClinGen CA10013404
- ClinVar RCV003007188
- ClinVar RCV006342679
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.29
- ESM-1b 0.09
- AlphaMissense 0.12
- MetaLR 0.66
- MetaSVM 0.54
- CADD 21.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)