S189F (p.Ser189Phe) variant of TNNT2 (Troponin T, cardiac muscle)
S189F (p.Ser189Phe) 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; not provided; Dilated cardiomyopathy 1D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
S189F (p.Ser189Phe) variant details
- p.Ser189Phe
- rs727504246
- ClinGen CA004746
- ClinVar RCV000154216
- ClinVar RCV000471745
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.90
- MetaLR 0.75
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Structural context available
- Cited in: Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. (PMID 11034944)
- Cited in: A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular… (PMID 10525521)