V57M (p.Val57Met) variant of CAV3 (Caveolin-3)
V57M (p.Val57Met) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V57M (p.Val57Met) variant details
- p.Val57Met
- rs116840795
- ClinGen CA215150
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57480
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 25.50
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Pathogenic (in HYPCK)
- UniProt: Pathogenic (in HYPCK)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. (PMID 15099591)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)