V40M (p.Val40Met) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V40M (p.Val40Met) 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 Hypertrophic cardiomyopathy; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- rs780085131
- ClinGen CA043085
- ClinVar RCV001221257
- ClinVar RCV002339585
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 25.70
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided; Cardiovascular phenot)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available