E129Q (p.Glu129Gln) variant of TNNT2 (Troponin T, cardiac muscle)
E129Q (p.Glu129Gln) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary familial dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature.
E129Q (p.Glu129Gln) variant details
- p.Glu129Gln
- rs1571627006
- ClinGen CA344206251
- ClinVar RCV000845448
- Ensembl rs1571627006
- Likely pathogenic
- Primary familial dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.66
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Primary familial dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)