R634W (p.Arg634Trp) variant of RBM20 (RNA-binding protein 20)
R634W (p.Arg634Trp) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R634W (p.Arg634Trp) variant details
- p.Arg634Trp
- rs796734066
- ClinGen CA16613011
- ClinVar RCV000472655
- ClinVar RCV000497722
- Pathogenic
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.55
- AlphaMissense 0.69
- MetaLR 0.86
- MetaSVM 0.90
- CADD 23.70
- PolyPhen-2 0.87
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Pathogenic (in CMD1DD)
- UniProt: Pathogenic (in CMD1DD)
- Population evidence available
- Structural context available
- Cited in: Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. (PMID 20590677)
- Cited in: Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20)… (PMID 29895960)