E455K (p.Glu455Lys) variant of BAG3 (O95817)
E455K (p.Glu455Lys) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E455K (p.Glu455Lys) variant details
- p.Glu455Lys
- rs397516881
- ClinGen CA135016
- NCI-TCGA Cosmic COSV6484
- ClinVar RCV000037887
- Pathogenic
- Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrill)
- EBI: Pathogenic (in CMD1HH)
- UniProt: Pathogenic (in CMD1HH)
- Structural context available
- Cited in: A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. (PMID 21459883)
- Cited in: Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated… (PMID 21353195)