R636H (p.Arg636His) variant of RBM20 (RNA-binding protein 20)
R636H (p.Arg636His) 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; Primary familial dilated cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R636H (p.Arg636His) variant details
- p.Arg636His
- rs267607004
- ClinGen CA251414
- ClinVar RCV000000295
- ClinVar RCV000157430
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Primary familial dilated cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.73
- AlphaMissense 0.58
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.90
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Primary familial dilated cardiomyopath)
- EBI: Pathogenic (in CMD1DD)
- UniProt: Pathogenic (in CMD1DD)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)