S79W (p.Ser79Trp) variant of TNNT2 (Troponin T, cardiac muscle)
S79W (p.Ser79Trp) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature.
S79W (p.Ser79Trp) variant details
- p.Ser79Trp
- rs761953142
- ClinGen CA344206739
- ClinVar RCV001804550
- ExAC rs761953142
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.20
- MetaLR 0.96
- MetaSVM 0.97
- PolyPhen-2 0.95
- SIFT 0.03
- EVE 0.12
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)