G56S (p.Gly56Ser) variant of CAV3 (Caveolin-3)
G56S (p.Gly56Ser) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Distal myopathy, Tateyama type; Elevated circulating c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- rs72546667
- ClinGen CA119422
- cosmic curated COSV57481
- ClinVar RCV000008768
- Benign/Likely benign
- Cardiovascular phenotype; Distal myopathy, Tateyama type; Elevated circulating c
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.08
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Distal myopathy, Tateyama type; Elevat)
- EBI: Benign (in dbSNP:rs72546667)
- UniProt: Benign (in dbSNP:rs72546667)
- Most common in the HGDP:SAN population (allele frequency 0.33)
- Structural context available
- Cited in: Mutations in the caveolin-3 gene: When are they pathogenic? (PMID 11251997)
- Cited in: Molecular and muscle pathology in a series of caveolinopathy patients. (PMID 15580566)