V28M (p.Val28Met) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V28M (p.Val28Met) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- rs776834755
- ClinGen CA057025
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99908
- Benign/Likely benign
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 22.50
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ve)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)