R102W (p.Arg102Trp) variant of TNNT2 (Troponin T, cardiac muscle)
R102W (p.Arg102Trp) 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; TNNT2-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
R102W (p.Arg102Trp) variant details
- p.Arg102Trp
- rs397516456
- ClinGen CA004266
- cosmic curated COSV52663
- ClinVar RCV000159280
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; TNNT2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; TNNT2-related disorder; not provided)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Cited in: Sudden death due to troponin T mutations. (PMID 9060892)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)