E50G (p.Glu50Gly) variant of TNNT2 (Troponin T, cardiac muscle)
E50G (p.Glu50Gly) 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 0.44 / 1. The record also includes population frequency data and published literature.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- rs1224117594
- ClinGen CA344207232
- ClinVar RCV002837478
- TOPMed rs1224117594
- Uncertain significance
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 22.90
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)