E54K (p.Glu54Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
E54K (p.Glu54Lys) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1Y. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs104894505
- ClinGen CA018668
- NCI-TCGA Cosmic COSV1043
- NCI-TCGA Cosmic COSV5125
- Uncertain significance
- Dilated cardiomyopathy 1Y
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 22.40
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Y)
- EBI: Pathogenic (in CMD1Y)
- UniProt: Pathogenic (in CMD1Y)
- Population evidence available
- Structural context available
- Cited in: Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. (PMID 11273725)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)