A13R (p.Ala13Arg) variant of BAG3 (O95817)
A13R (p.Ala13Arg) 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.
A13R (p.Ala13Arg) variant details
- p.Ala13Arg
- rs2493979552
- ClinGen CA2740093557
- ClinVar RCV003807213
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.54
- 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)