E4A (p.Glu4Ala) variant of RBM10 (RNA-binding protein 10)
E4A (p.Glu4Ala) in RBM10 (RNA-binding protein 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E4A (p.Glu4Ala) variant details
- p.Glu4Ala
- rs1481063725
- gnomAD X-47145481-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 23.40
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.644
- Literature evidence available