R783P (p.Arg783Pro) variant of MYH7 (Myosin-7)
R783P (p.Arg783Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R783P (p.Arg783Pro) variant details
- p.Arg783Pro
- rs397516142
- ClinGen CA012196
- ClinVar RCV000035784
- ClinVar RCV000157360
- Likely pathogenic
- Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.13
- MetaLR 0.79
- MetaSVM 0.32
- PolyPhen-2 0.77
- SIFT 0.06
- EVE 0.27
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)