R141W (p.Arg141Trp) variant of TNNT2 (Troponin T, cardiac muscle)
R141W (p.Arg141Trp) 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 Dilated and arrhythmogenic cardiomyopathy; Cardiovascular phenotype; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
R141W (p.Arg141Trp) variant details
- p.Arg141Trp
- rs74315380
- ClinGen CA090410
- ClinVar RCV000013226
- ClinVar RCV000030567
- Pathogenic/Likely pathogenic
- Dilated and arrhythmogenic cardiomyopathy; Cardiovascular phenotype; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.07
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dilated and arrhythmogenic cardiomyopathy; Cardiovascular phenot)
- EBI: Pathogenic (in CMD1D)
- UniProt: Pathogenic (in CMD1D)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Cited in: Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. (PMID 15542288)
- Cited in: Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. (PMID 15923195)