N83D (p.Asn83Asp) variant of TNNT2 (Troponin T, cardiac muscle)
N83D (p.Asn83Asp) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature.
N83D (p.Asn83Asp) variant details
- p.Asn83Asp
- rs1060500235
- ClinGen CA16610016
- ClinVar RCV000473984
- Ensembl rs1060500235
- Uncertain significance
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.38
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.56
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)