K30R (p.Lys30Arg) variant of CAV3 (Caveolin-3)
K30R (p.Lys30Arg) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- rs753431407
- ClinGen CA2236283
- ClinVar RCV000790453
- ClinVar RCV001315851
- Uncertain significance
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.63
- MetaSVM -0.02
- CADD 22.60
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00022)
- 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)