Q33D (p.Gln33Asp) variant of BAG3 (O95817)
Q33D (p.Gln33Asp) 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.
Q33D (p.Gln33Asp) variant details
- p.Gln33Asp
- rs2493979814
- ClinGen CA2580082464
- ClinVar RCV002816435
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.366
- 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)