M113I (p.Met113Ile) variant of MYH7 (Myosin-7)
M113I (p.Met113Ile) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; Primary familial hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M113I (p.Met113Ile) variant details
- p.Met113Ile
- rs867183634
- ClinGen CA257826703
- ClinVar RCV002633264
- ClinVar RCV006272153
- Uncertain significance
- Hypertrophic cardiomyopathy; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.68
- ESM-1b 0.45
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.49
- CADD 23.70
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Primary familial hypertrophic cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)