M877T (p.Met877Thr) variant of MYH7 (Myosin-7)
M877T (p.Met877Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arrhythmogenic right ventricular cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
M877T (p.Met877Thr) variant details
- p.Met877Thr
- rs1282663873
- ClinGen CA389047948
- ClinVar RCV006609225
- Ensembl rs1282663873
- Likely pathogenic
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.68
- MetaLR 0.78
- MetaSVM 0.60
- PolyPhen-2 0.33
- SIFT 0.00
- EVE 0.31
- ClinVar: Likely pathogenic (Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Likely pathogenic (in CMH1)
- UniProt: Likely pathogenic (in CMH1)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)