R30P (p.Arg30Pro) variant of RBM20 (RNA-binding protein 20)
R30P (p.Arg30Pro) 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 0.31 / 1. The record also includes population frequency data and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- gnomAD rs1195390759
- Uncertain significance
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.34
- MetaLR 0.45
- MetaSVM -0.56
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available