R16Q (p.Arg16Gln) variant of KCNE2 (Q9Y6J6)
R16Q (p.Arg16Gln) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs368865412
- ClinGen CA301982
- NCI-TCGA Cosmic COSV5170
- ClinVar RCV000170954
- Uncertain significance
- not provided; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.35
- MetaSVM -0.72
- CADD 0.30
- ClinVar: Uncertain significance (not provided; Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)