P35R (p.Pro35Arg) variant of RBM20 (RNA-binding protein 20)
P35R (p.Pro35Arg) 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 Cardiovascular phenotype; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- rs2134792790
- ClinGen CA378527676
- ClinVar RCV001921672
- ClinVar RCV002397923
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.27
- MetaLR 0.59
- MetaSVM -0.25
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)