Q598P (p.Gln598Pro) variant of RBM20 (RNA-binding protein 20)
Q598P (p.Gln598Pro) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
Q598P (p.Gln598Pro) variant details
- p.Gln598Pro
- rs2135078982
- ClinGen CA378390902
- ClinVar RCV001376077
- UniProt VAR 086523
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.93
- MetaLR 0.74
- MetaSVM 0.65
- SIFT 0.00
- MutPred 0.37
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic (in CMD1DD)
- UniProt: Pathogenic (in CMD1DD)
- Structural context available
- Cited in: Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations. (PMID 34174465)
- Cited in: Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. (PMID 19712804)