G531R (p.Gly531Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G531R (p.Gly531Arg) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G531R (p.Gly531Arg) variant details
- p.Gly531Arg
- rs397515912
- ClinGen CA010681
- ClinVar RCV000035416
- ClinVar RCV000505710
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)