R21S (p.Arg21Ser) variant of RBM10 (RNA-binding protein 10)
R21S (p.Arg21Ser) in RBM10 (RNA-binding protein 10) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- rs782756726
- gnomAD X-47145502-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 23.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.926
- Literature evidence available