I13F (p.Ile13Phe) variant of CAV3 (Caveolin-3)
I13F (p.Ile13Phe) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
I13F (p.Ile13Phe) variant details
- p.Ile13Phe
- rs796052171
- ClinGen CA204138
- ClinVar RCV000190168
- Ensembl rs796052171
- Likely pathogenic
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.62
- MetaSVM 0.02
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Likely pathogenic (Long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)