R145Q (p.Arg145Gln) variant of TNNI3 (Troponin I, cardiac muscle)
R145Q (p.Arg145Gln) 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 Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Dilated car. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R145Q (p.Arg145Gln) variant details
- p.Arg145Gln
- rs397516349
- ClinGen CA021673
- NCI-TCGA Cosmic COSV5257
- cosmic curated COSV52572
- Pathogenic/Likely pathogenic
- Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Dilated car
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.80
- AlphaMissense 0.69
- MetaLR 0.85
- MetaSVM 0.94
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy)
- EBI: Pathogenic (in RCM1)
- UniProt: Pathogenic (in RCM1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)