W36* (p.Trp36Ter) variant of BAG3 (O95817)
W36* (p.Trp36Ter) in BAG3 (O95817) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W36* (p.Trp36Ter) variant details
- p.Trp36Ter
- rs1846844070
- ClinGen CA378294193
- ClinVar RCV001220639
- ClinVar RCV003163698
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.839
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.358
- 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)