A18S (p.Ala18Ser) variant of RBM10 (RNA-binding protein 10)
A18S (p.Ala18Ser) in RBM10 (RNA-binding protein 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs1251032975
- gnomAD X-47145498-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 17.30
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.837
- Literature evidence available