R94T (p.Arg94Thr) variant of TNNT2 (Troponin T, cardiac muscle)
R94T (p.Arg94Thr) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
R94T (p.Arg94Thr) variant details
- p.Arg94Thr
- rs397516452
- ClinGen CA004216
- ClinVar RCV000036568
- ClinVar RCV000159277
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.73
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.27
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)