V14I (p.Val14Ile) variant of KCNE2 (Q9Y6J6)
V14I (p.Val14Ile) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- rs142153692
- ClinGen CA211456
- ClinVar RCV000058375
- ClinVar RCV000148519
- Likely benign
- not specified; not provided; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.71
- CADD 4.86
- ClinVar: Likely benign (not specified; not provided; Long QT syndrome 6)
- EBI: Likely benign (in LQT6)
- UniProt: Likely benign (in LQT6)
- Most common in the 1KG:LWK population (allele frequency 0.017)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)