R9L (p.Arg9Leu) variant of RBM10 (RNA-binding protein 10)
R9L (p.Arg9Leu) 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.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD X-47145475-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 23.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.899
- Literature evidence available