C24S (p.Cys24Ser) variant of RBM20 (RNA-binding protein 20)
C24S (p.Cys24Ser) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C24S (p.Cys24Ser) variant details
- p.Cys24Ser
- rs1371624996
- ClinGen CA378527504
- ClinVar RCV001312717
- TOPMed rs1371624996
- Uncertain significance
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.19
- MetaLR 0.42
- MetaSVM -0.62
- CADD 18.80
- PolyPhen-2 0.11
- SIFT 0.55
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)