E12Q (p.Glu12Gln) variant of TNNT2 (Troponin T, cardiac muscle)
E12Q (p.Glu12Gln) 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 0.73 / 1. The record also includes published literature.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- rs760247765
- ClinGen CA344208961
- ClinVar RCV000534952
- ExAC rs760247765
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.11
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- 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)