A18E (p.Ala18Glu) variant of RBM10 (RNA-binding protein 10)
A18E (p.Ala18Glu) in RBM10 (RNA-binding protein 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- rs781937346
- gnomAD X-47147387-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 22.70
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.837
- Literature evidence available