R151W (p.Arg151Trp) variant of TNNT2 (Troponin T, cardiac muscle)
R151W (p.Arg151Trp) 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 Familial isolated dilated cardiomyopathy; Cardiovascular phenotype; Primary dila. 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.
R151W (p.Arg151Trp) variant details
- p.Arg151Trp
- rs74315379
- ClinGen CA004526
- ClinVar RCV000013225
- ClinVar RCV000157537
- Pathogenic/Likely pathogenic
- Familial isolated dilated cardiomyopathy; Cardiovascular phenotype; Primary dila
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial isolated dilated cardiomyopathy; Cardiovascular phenoty)
- EBI: Pathogenic (in CMD1D)
- UniProt: Pathogenic (in CMD1D)
- Population evidence available
- Cited in: Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. (PMID 11684629)
- Cited in: Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PMID 15769782)