M10R (p.Met10Arg) variant of BAG3 (O95817)
M10R (p.Met10Arg) in BAG3 (O95817) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
M10R (p.Met10Arg) variant details
- p.Met10Arg
- rs2493979514
- ClinGen CA2580082413
- ClinVar RCV002438065
- ClinVar RCV006559429
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.478
- 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)