K30Q (p.Lys30Gln) variant of CAV3 (Caveolin-3)
K30Q (p.Lys30Gln) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K30Q (p.Lys30Gln) variant details
- p.Lys30Gln
- rs730880425
- ClinGen CA351661516
- ClinVar RCV001215546
- TOPMed rs730880425
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.79
- MetaSVM 0.61
- CADD 24.80
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)