K59N (p.Lys59Asn) variant of CAV3 (Caveolin-3)
K59N (p.Lys59Asn) 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 0.64 / 1. The record also includes published literature and structural context.
K59N (p.Lys59Asn) variant details
- p.Lys59Asn
- rs1708131659
- ClinGen CA351663234
- ClinVar RCV001368688
- Ensembl rs1708131659
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.70
- MetaSVM -0.05
- PolyPhen-2 0.39
- SIFT 0.04
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)