N122D (p.Asn122Asp) variant of TNNT2 (Troponin T, cardiac muscle)
N122D (p.Asn122Asp) 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 Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature.
N122D (p.Asn122Asp) variant details
- p.Asn122Asp
- rs1553282484
- ClinGen CA344206346
- ClinVar RCV000646071
- Ensembl rs1553282484
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.36
- MetaLR 0.67
- MetaSVM 0.39
- PolyPhen-2 0.66
- SIFT 0.43
- EVE 0.15
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- 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)