M90V (p.Met90Val) variant of MYH7 (Myosin-7)
M90V (p.Met90Val) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Myopathy, myosin storag. 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.
M90V (p.Met90Val) variant details
- p.Met90Val
- rs769054108
- ClinGen CA034054
- ClinVar RCV002027017
- ClinVar RCV002486736
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Myopathy, myosin storag
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.93
- MetaSVM 1.10
- CADD 27.20
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 1; Myopath)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)