R104L (p.Arg104Leu) variant of TNNT2 (Troponin T, cardiac muscle)
R104L (p.Arg104Leu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
R104L (p.Arg104Leu) variant details
- p.Arg104Leu
- rs397516457
- ClinGen CA004302
- ClinVar RCV000036576
- ClinVar RCV000159284
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Cited in: A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular… (PMID 10525521)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)