R104C (p.Arg104Cys) variant of TNNT2 (Troponin T, cardiac muscle)
R104C (p.Arg104Cys) 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 0.90 / 1. The record also includes published literature.
R104C (p.Arg104Cys) variant details
- p.Arg104Cys
- rs727503513
- ClinGen CA004288
- cosmic curated COSV52661
- ClinVar RCV000152104
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1D
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)