R634Q (p.Arg634Gln) variant of RBM20 (RNA-binding protein 20)
R634Q (p.Arg634Gln) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R634Q (p.Arg634Gln) variant details
- p.Arg634Gln
- rs267607001
- ClinGen CA251408
- ClinVar RCV000000293
- ClinVar RCV000183859
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.60
- MetaLR 0.87
- MetaSVM 0.90
- CADD 26.00
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Pathogenic (in CMD1DD)
- UniProt: Pathogenic (in CMD1DD)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. (PMID 19712804)
- Cited in: Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. (PMID 20590677)