R783G (p.Arg783Gly) variant of MYH7 (Myosin-7)
R783G (p.Arg783Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
R783G (p.Arg783Gly) variant details
- p.Arg783Gly
- rs727503258
- ClinGen CA012174
- ClinVar RCV000151274
- ExAC rs727503258
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.29
- MetaLR 0.76
- MetaSVM 0.13
- PolyPhen-2 0.18
- SIFT 0.03
- EVE 0.19
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)