T51I (p.Thr51Ile) variant of CAV3 (Caveolin-3)
T51I (p.Thr51Ile) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs1708129603
- ClinGen CA351663181
- ClinVar RCV001978237
- ClinVar RCV003490996
- Uncertain significance
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.73
- MetaSVM 0.49
- PolyPhen-2 0.59
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; 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)