G4R (p.Gly4Arg) variant of TNNI3 (Troponin I, cardiac muscle)
G4R (p.Gly4Arg) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs1327794718
- TOPMed rs1327794718
- ClinGen CA407443510
- ClinVar RCV001929719
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM 0.02
- PolyPhen-2 0.00
- SIFT 0.64
- MutPred 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available