E40* (p.Glu40Ter) variant of TPM1 (Tropomyosin alpha-1 chain)
E40* (p.Glu40Ter) in TPM1 (Tropomyosin alpha-1 chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMD1Y. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- rs104894501
- ClinGen CA017874
- ClinVar RCV000621859
- ClinVar RCV000700155
- Pathogenic
- in CMD1Y
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 22.10
- EBI: Pathogenic (in CMD1Y)
- UniProt: Pathogenic (in CMD1Y)
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)