R170W (p.Arg170Trp) variant of TNNI3 (Troponin I, cardiac muscle)
R170W (p.Arg170Trp) 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 not provided; Cardiomyopathy, familial restrictive, 1; Restrictive cardiomyopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R170W (p.Arg170Trp) variant details
- p.Arg170Trp
- rs727503504
- ClinGen CA021778
- cosmic curated COSV52572
- ClinVar RCV000157530
- Pathogenic/Likely pathogenic
- not provided; Cardiomyopathy, familial restrictive, 1; Restrictive cardiomyopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.81
- AlphaMissense 0.90
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.10
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiomyopathy, familial restrictive, 1; Restricti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available