R654G (p.Arg654Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R654G (p.Arg654Gly) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
R654G (p.Arg654Gly) variant details
- p.Arg654Gly
- rs397515939
- ClinGen CA011549
- ClinVar RCV000157310
- ExAC rs397515939
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.16
- MetaSVM -0.86
- SIFT 0.14
- EVE 0.39
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic (in CMH4)
- UniProt: Likely pathogenic (in CMH4)
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)