S22F (p.Ser22Phe) variant of RBM10 (RNA-binding protein 10)
S22F (p.Ser22Phe) in RBM10 (RNA-binding protein 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- rs2147064198
- gnomAD X-47147360-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 18.40
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.56
- Literature evidence available