R141W (p.Arg141Trp) variant of TNNI3 (Troponin I, cardiac muscle)
R141W (p.Arg141Trp) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 2A; Cardiomyopathy, familial re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R141W (p.Arg141Trp) variant details
- p.Arg141Trp
- rs730881071
- ClinGen CA021627
- ClinVar RCV000159219
- ClinVar RCV000473123
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 2A; Cardiomyopathy, familial re
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.72
- AlphaMissense 0.87
- MetaLR 0.89
- MetaSVM 0.95
- CADD 24.40
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Likely pathogenic (in CMH7)
- UniProt: Likely pathogenic (in CMH7)
- Most common in the South Asian population (allele frequency 0.00044)
- 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: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)