R22G (p.Arg22Gly) variant of TNNI3 (Troponin I, cardiac muscle)
R22G (p.Arg22Gly) 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 Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- rs2085738602
- ClinGen CA407443080
- ClinVar RCV001170845
- ClinVar RCV002557471
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.35
- MetaLR 0.55
- MetaSVM 0.20
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)