A114E (p.Ala114Glu) variant of TNNT2 (Troponin T, cardiac muscle)
A114E (p.Ala114Glu) 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 Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature.
A114E (p.Ala114Glu) variant details
- p.Ala114Glu
- rs727504245
- ClinGen CA344206434
- ClinVar RCV001908930
- ClinVar RCV002324303
- Conflicting interpretations
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.17
- MetaLR 0.90
- MetaSVM 0.63
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.18
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- 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)