G4E (p.Gly4Glu) variant of TNNI3 (Troponin I, cardiac muscle)
G4E (p.Gly4Glu) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- rs1351385449
- ClinGen CA407443505
- ClinVar RCV001308925
- ClinVar RCV002350559
- Conflicting interpretations
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.25
- MetaLR 0.61
- MetaSVM -0.33
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available