A80T (p.Ala80Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A80T (p.Ala80Thr) 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 Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A80T (p.Ala80Thr) variant details
- p.Ala80Thr
- rs730880700
- ClinGen CA012189
- ClinVar RCV000158454
- ClinVar RCV001181610
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)