A51S (p.Ala51Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A51S (p.Ala51Ser) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A51S (p.Ala51Ser) variant details
- p.Ala51Ser
- rs534282225
- ClinGen CA010559
- ClinVar RCV000172017
- ClinVar RCV001063574
- Conflicting interpretations
- Cardiovascular phenotype; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 7.55
- PolyPhen-2 0.02
- SIFT 0.90
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiomyopathy; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)