R136W (p.Arg136Trp) variant of TNNT2 (Troponin T, cardiac muscle)
R136W (p.Arg136Trp) 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 Familial isolated dilated cardiomyopathy; Cardiovascular phenotype; Primary dila. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
R136W (p.Arg136Trp) variant details
- p.Arg136Trp
- rs786204405
- ClinGen CA004411
- ClinVar RCV001171165
- Ensembl rs786204405
- Uncertain significance
- Familial isolated dilated cardiomyopathy; Cardiovascular phenotype; Primary dila
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)