R170Q (p.Arg170Gln) variant of TNNI3 (Troponin I, cardiac muscle)
R170Q (p.Arg170Gln) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Restrictive cardiomyopathy; Hypertrophic cardiomyopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R170Q (p.Arg170Gln) variant details
- p.Arg170Gln
- rs727503503
- ClinGen CA021784
- cosmic curated COSV52571
- ClinVar RCV000152076
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Restrictive cardiomyopathy; Hypertrophic cardiomyopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.88
- AlphaMissense 0.67
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Restrictive cardiomyopathy; Hypertroph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available