E179G (p.Glu179Gly) variant of TNNI3 (Troponin I, cardiac muscle)
E179G (p.Glu179Gly) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dilated cardiomyopathy 1FF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
E179G (p.Glu179Gly) variant details
- p.Glu179Gly
- rs2147283171
- ClinGen CA407440236
- ClinVar RCV001530202
- Ensembl rs2147283171
- Likely pathogenic
- Dilated cardiomyopathy 1FF
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.41
- MetaLR 0.71
- MetaSVM 0.50
- PolyPhen-2 0.69
- SIFT 0.04
- EVE 0.52
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1FF)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available