E192K (p.Glu192Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
E192K (p.Glu192Lys) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1Y. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E192K (p.Glu192Lys) variant details
- p.Glu192Lys
- rs199476315
- ClinGen CA018196
- NCI-TCGA Cosmic COSV5126
- cosmic curated COSV51260
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1Y
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Pathogenic (in LVNC9)
- UniProt: Pathogenic (in LVNC9)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. (PMID 21551322)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)