E40K (p.Glu40Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
E40K (p.Glu40Lys) 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 Hypertrophic cardiomyopathy. 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.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs104894501
- ClinGen CA018647
- cosmic curated COSV51263
- ClinVar RCV000013275
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 22.20
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Pathogenic (in CMD1Y)
- UniProt: Pathogenic (in CMD1Y)
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)