R162P (p.Arg162Pro) variant of TNNI3 (Troponin I, cardiac muscle)
R162P (p.Arg162Pro) 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; Hypertrophic cardiomyopathy 7; Primary familial hypert. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
R162P (p.Arg162Pro) variant details
- p.Arg162Pro
- rs397516354
- ClinGen CA021749
- ClinVar RCV000629031
- ClinVar RCV002250504
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 7; Primary familial hypert
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.11
- MetaLR 0.41
- MetaSVM -0.06
- PolyPhen-2 0.77
- SIFT 0.03
- EVE 0.13
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hypertrophic cardiomyopathy 7; Primary)
- EBI: Pathogenic (in CMH7)
- UniProt: Pathogenic (in CMH7)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and… (PMID 16199542)