M1I (p.Met1Ile) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
M1I (p.Met1Ile) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiomyopathy; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs397516045
- ClinGen CA015014
- ClinVar RCV000035622
- ClinVar RCV000578781
- Conflicting interpretations
- Cardiomyopathy; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- ESM-1b 0.00
- AlphaMissense 0.30
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; not provided; Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)