E49K (p.Glu49Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E49K (p.Glu49Lys) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- rs757526942
- ClinGen CA088017
- ClinVar RCV001175668
- ClinVar RCV001875780
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 20.50
- PolyPhen-2 0.20
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy 2; Cardiomyopathy, f)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- 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)