E62* (p.Glu62Ter) variant of TNNI3 (Troponin I, cardiac muscle)
E62* (p.Glu62Ter) in TNNI3 (Troponin I, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E62* (p.Glu62Ter) variant details
- p.Glu62Ter
- rs1357844466
- ClinGen CA407441936
- ClinVar RCV004545966
- ClinVar RCV004587646
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.27
- MetaLR 0.78
- MetaSVM 0.53
- CADD 45.00
- PolyPhen-2 1.00
- SIFT 0.31
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)