R27S (p.Arg27Ser) variant of KCNE2 (Q9Y6J6)
R27S (p.Arg27Ser) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- rs74315449
- ClinGen CA410196238
- ClinVar RCV001526947
- ClinVar RCV001873718
- Uncertain significance
- Long QT syndrome 6; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.82
- MetaSVM 0.81
- CADD 22.40
- ClinVar: Uncertain significance (Long QT syndrome 6; not specified)
- EBI: Pathogenic (in LQT6)
- UniProt: Pathogenic (in LQT6)
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)