E913V (p.Glu913Val) variant of RBM20 (RNA-binding protein 20)
E913V (p.Glu913Val) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dilated cardiomyopathy 1DD. The record also includes published literature and structural context.
E913V (p.Glu913Val) variant details
- p.Glu913Val
- rs2493493297
- ClinGen CA378377383
- ClinVar RCV003049556
- Likely pathogenic
- Dilated cardiomyopathy 1DD
- Missense
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1DD)
- EBI: Likely pathogenic (in CMD1DD)
- UniProt: Likely pathogenic (in CMD1DD)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)