A66V (p.Ala66Val) variant of KCNE2 (Q9Y6J6)
A66V (p.Ala66Val) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- rs16991656
- ClinGen CA218807
- ClinVar RCV000058366
- ClinVar RCV001854215
- Uncertain significance
- not provided; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.50
- MetaLR 0.85
- MetaSVM 0.84
- CADD 25.80
- ClinVar: Uncertain significance (not provided; Long QT syndrome 6)
- EBI: Variant of uncertain significance (in dbSNP:rs16991656)
- UniProt: Uncertain significance (in dbSNP:rs16991656)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)