D96N (p.Asp96Asn) variant of TNNT2 (Troponin T, cardiac muscle)
D96N (p.Asp96Asn) 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; Cardiomyopathy, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature.
D96N (p.Asp96Asn) variant details
- p.Asp96Asn
- rs1553282768
- ClinGen CA027243
- ClinVar RCV000546244
- ClinVar RCV004802173
- Conflicting interpretations
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.84
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)