M2T (p.Met2Thr) variant of CAV3 (Caveolin-3)
M2T (p.Met2Thr) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- rs375301072
- ClinGen CA69861834
- ClinVar RCV001069061
- ESP rs375301072
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.75
- MetaSVM 0.58
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)