R30C (p.Arg30Cys) variant of RBM10 (RNA-binding protein 10)
R30C (p.Arg30Cys) in RBM10 (RNA-binding protein 10) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- rs782008653
- ExAC rs782008653
- TOPMed rs782008653
- gnomAD rs782008653
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.16
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available