Q12H (p.Gln12His) variant of CAV3 (Caveolin-3)
Q12H (p.Gln12His) 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 0.42 / 1. The record also includes published literature and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- rs1553613127
- ClinGen CA351661295
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.65
- MetaSVM 0.52
- PolyPhen-2 0.31
- SIFT 0.03
- 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)