I22T (p.Ile22Thr) variant of CAV3 (Caveolin-3)
I22T (p.Ile22Thr) 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; Rippling muscle disease 2; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I22T (p.Ile22Thr) variant details
- p.Ile22Thr
- rs763666060
- ClinGen CA2236282
- ClinVar RCV001197876
- ClinVar RCV001300267
- Uncertain significance
- Cardiovascular phenotype; Rippling muscle disease 2; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.87
- ESM-1b 0.00
- AlphaMissense 0.88
- MetaLR 0.83
- MetaSVM 0.82
- CADD 28.20
- ClinVar: Uncertain significance (Cardiovascular phenotype; Rippling muscle disease 2; Long QT syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)