R636L (p.Arg636Leu) variant of RBM20 (RNA-binding protein 20)
R636L (p.Arg636Leu) 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 Dilated cardiomyopathy 1DD; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
R636L (p.Arg636Leu) variant details
- p.Arg636Leu
- rs267607004
- ClinGen CA378370312
- ClinVar RCV003855880
- Pathogenic/Likely pathogenic
- Dilated cardiomyopathy 1DD; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.58
- MetaLR 0.89
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.72
- ClinVar: Pathogenic/Likely pathogenic (Dilated cardiomyopathy 1DD; Cardiovascular phenotype)
- EBI: Pathogenic (in CMD1DD)
- UniProt: Pathogenic (in CMD1DD)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)