D98E (p.Asp98Glu) variant of TNNT2 (Troponin T, cardiac muscle)
D98E (p.Asp98Glu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature.
D98E (p.Asp98Glu) variant details
- p.Asp98Glu
- rs397516454
- ClinGen CA344206634
- ClinVar RCV000825476
- Ensembl rs397516454
- Likely pathogenic
- not provided; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.95
- MetaLR 0.94
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.46
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)