R636S (p.Arg636Ser) variant of RBM20 (RNA-binding protein 20)
R636S (p.Arg636Ser) 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 0.82 / 1. The record also includes published literature and structural context.
R636S (p.Arg636Ser) variant details
- p.Arg636Ser
- rs267607002
- ClinGen CA251411
- ClinVar RCV000000294
- ClinVar RCV000183860
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Primary familial dilated cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.55
- MetaLR 0.89
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.56
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Primary familial dilated cardiomyopath)
- EBI: Pathogenic (in CMD1DD)
- UniProt: Pathogenic (in CMD1DD)
- Structural context available
- Cited in: Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. (PMID 19712804)
- Cited in: Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced… (PMID 26604136)