S53G (p.Ser53Gly) variant of CAV3 (Caveolin-3)
S53G (p.Ser53Gly) in CAV3 (Caveolin-3) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- rs116840794
- ClinGen CA215193
- ClinVar RCV000024419
- UniProt VAR 029541
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in RMD2)
- UniProt: Pathogenic (in RMD2)
- Structural context available
- Cited in: A new missense mutation in caveolin-3 gene causes rippling muscle disease. (PMID 16458928)
- Cited in: Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. (PMID 11001938)