K20E (p.Lys20Glu) variant of CAV3 (Caveolin-3)
K20E (p.Lys20Glu) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- rs1707653132
- ClinGen CA351661387
- ClinVar RCV001350841
- Ensembl rs1707653132
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.70
- MetaSVM 0.32
- PolyPhen-2 0.76
- SIFT 0.17
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)