Q113E (p.Gln113Glu) variant of TNNT2 (Troponin T, cardiac muscle)
Q113E (p.Gln113Glu) 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; Cardiomyopathy, familial restrictive, 3; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
Q113E (p.Gln113Glu) variant details
- p.Gln113Glu
- rs2102261570
- ClinGen CA344206447
- ClinVar RCV001959522
- Ensembl rs2102261570
- Uncertain significance
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)