M105T (p.Met105Thr) variant of TNNT2 (Troponin T, cardiac muscle)
M105T (p.Met105Thr) 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 0.61 / 1. The record also includes population frequency data and published literature.
M105T (p.Met105Thr) variant details
- p.Met105Thr
- rs748914885
- ClinGen CA088981
- ClinVar RCV003791989
- ExAC rs748914885
- Uncertain significance
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 24.70
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)