R145W (p.Arg145Trp) variant of TNNI3 (Troponin I, cardiac muscle)
R145W (p.Arg145Trp) 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 Hypertrophic cardiomyopathy; Restrictive cardiomyopathy; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R145W (p.Arg145Trp) variant details
- p.Arg145Trp
- rs104894724
- ClinGen CA021667
- NCI-TCGA Cosmic COSV5257
- cosmic curated COSV52572
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy; Restrictive cardiomyopathy; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.82
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy; Restrictive cardiomyopathy; Dilated)
- EBI: Pathogenic (in RCM1)
- UniProt: Pathogenic (in RCM1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Troponin I: inhibitor or facilitator. (PMID 10098965)
- Cited in: Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (PMID 12531876)