Q9L (p.Gln9Leu) variant of KCNE2 (Q9Y6J6)
Q9L (p.Gln9Leu) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q9L (p.Gln9Leu) variant details
- p.Gln9Leu
- rs758038035
- ClinGen CA410196119
- ClinVar RCV003617146
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.42
- MetaSVM -0.68
- CADD 10.40
- ClinVar: Uncertain significance (Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)