Q9E (p.Gln9Glu) variant of KCNE2 (Q9Y6J6)
Q9E (p.Gln9Glu) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q9E (p.Gln9Glu) variant details
- p.Gln9Glu
- rs16991652
- ClinGen CA117922
- ClinVar RCV000006424
- ClinVar RCV000058370
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.65
- CADD 9.88
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available
- Cited in: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID 10219239)
- Cited in: Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac… (PMID 14661677)