Q33H (p.Gln33His) variant of BAG3 (O95817)
Q33H (p.Gln33His) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- rs2134050569
- ClinGen CA378294174
- ClinVar RCV002022225
- Ensembl rs2134050569
- Uncertain significance
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.18
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)