D108E (p.Asp108Glu) variant of TNNT2 (Troponin T, cardiac muscle)
D108E (p.Asp108Glu) 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; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature.
D108E (p.Asp108Glu) variant details
- p.Asp108Glu
- rs1553282545
- ClinGen CA344206498
- ClinVar RCV000646068
- ClinVar RCV004025695
- Conflicting interpretations
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)