R141Q (p.Arg141Gln) variant of TNNI3 (Troponin I, cardiac muscle)
R141Q (p.Arg141Gln) 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; Dilated cardiomyopathy 2A; Cardiomyopathy, familial re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R141Q (p.Arg141Gln) variant details
- p.Arg141Gln
- rs397516347
- ClinGen CA021635
- cosmic curated COSV52573
- ClinVar RCV000159220
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Dilated cardiomyopathy 2A; Cardiomyopathy, familial re
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.58
- CADD 25.00
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Dilated cardiomyopathy 2A; Cardiomyopa)
- EBI: Pathogenic (in CMH7)
- UniProt: Pathogenic (in CMH7)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)