R144W (p.Arg144Trp) variant of TNNT2 (Troponin T, cardiac muscle)
R144W (p.Arg144Trp) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary dilated cardiomyopathy; Myocarditis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
R144W (p.Arg144Trp) variant details
- p.Arg144Trp
- rs45525839
- ClinGen CA004485
- ClinVar RCV000172139
- ClinVar RCV001364049
- Conflicting interpretations
- Primary dilated cardiomyopathy; Myocarditis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.91
- MetaLR 0.98
- MetaSVM 1.09
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Primary dilated cardiomyopathy; Myocarditis; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)