M684R (p.Met684Arg) variant of MYH7 (Myosin-7)
M684R (p.Met684Arg) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
M684R (p.Met684Arg) variant details
- p.Met684Arg
- rs606231332
- ClinGen CA011611
- ClinVar RCV000148965
- Ensembl rs606231332
- Pathogenic
- Familial cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.90
- MetaLR 0.83
- MetaSVM 0.87
- PolyPhen-2 0.68
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Familial cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available