R32S (p.Arg32Ser) variant of RBM10 (RNA-binding protein 10)
R32S (p.Arg32Ser) in RBM10 (RNA-binding protein 10) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R32S (p.Arg32Ser) variant details
- p.Arg32Ser
- rs1193846029
- gnomAD X-47147380-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 24.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available