R636C (p.Arg636Cys) variant of RBM20 (RNA-binding protein 20)
R636C (p.Arg636Cys) 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; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R636C (p.Arg636Cys) variant details
- p.Arg636Cys
- rs267607002
- ClinGen CA133286
- ClinVar RCV000036953
- ClinVar RCV000170520
- Pathogenic
- Cardiovascular phenotype; not provided; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.68
- AlphaMissense 0.55
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Primary dilated cardiomy)
- 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: Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. (PMID 20590677)
- Cited in: Functional analysis of DES-p.L398P and RBM20-p.R636C. (PMID 30262925)