R21C (p.Arg21Cys) variant of TNNI3 (Troponin I, cardiac muscle)
R21C (p.Arg21Cys) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- rs267607128
- ClinGen CA022092
- ClinVar RCV000013247
- ClinVar RCV001851817
- Pathogenic
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.63
- MetaLR 0.83
- MetaSVM 0.87
- CADD 29.60
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Pathogenic (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Gene mutations in apical hypertrophic cardiomyopathy. (PMID 16267253)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)