A18D (p.Ala18Asp) variant of RBM10 (RNA-binding protein 10)
A18D (p.Ala18Asp) in RBM10 (RNA-binding protein 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD X-47145472-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 22.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.837
- Literature evidence available