A80S (p.Ala80Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A80S (p.Ala80Ser) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A80S (p.Ala80Ser) variant details
- p.Ala80Ser
- rs730880700
- ClinGen CA221708620
- ClinVar RCV001190059
- ClinVar RCV001786449
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)