E33* (p.Glu33Ter) variant of TNNT2 (Troponin T, cardiac muscle)
E33* (p.Glu33Ter) in TNNT2 (Troponin T, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- rs377474357
- ClinGen CA089131
- ClinVar RCV000658098
- ClinVar RCV003451616
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 61.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-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)