A46T (p.Ala46Thr) variant of CAV3 (Caveolin-3)
A46T (p.Ala46Thr) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Myopathy with tubular aggregates; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs116840789
- ClinGen CA119428
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57481
- Pathogenic/Likely pathogenic
- Myopathy with tubular aggregates; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.92
- ESM-1b 0.32
- AlphaMissense 0.57
- MetaLR 0.93
- MetaSVM 1.07
- CADD 24.60
- ClinVar: Pathogenic/Likely pathogenic (Myopathy with tubular aggregates; Cardiovascular phenotype; not)
- EBI: Pathogenic (in RMD2)
- UniProt: Pathogenic (in RMD2)
- Population evidence available
- Structural context available
- Cited in: Phenotypic variability in rippling muscle disease. (PMID 10227634)
- Cited in: Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. (PMID 11001938)