R94S (p.Arg94Ser) variant of TNNT2 (Troponin T, cardiac muscle)
R94S (p.Arg94Ser) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypertrophic cardiomyopathy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R94S (p.Arg94Ser) variant details
- p.Arg94Ser
- rs397516453
- ClinGen CA004222
- ClinVar RCV000036569
- ClinVar RCV001171168
- Pathogenic
- Hypertrophic cardiomyopathy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.92
- MetaLR 0.92
- MetaSVM 0.89
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.29
- ClinVar: Pathogenic (Hypertrophic cardiomyopathy 2)
- EBI: Benign
- UniProt: Benign
- 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)