R30W (p.Arg30Trp) variant of RBM20 (RNA-binding protein 20)
R30W (p.Arg30Trp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- TOPMed rs1377317350
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.25
- AlphaMissense 0.15
- MetaLR 0.42
- MetaSVM -0.41
- CADD 25.10
- PolyPhen-2 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available