Q23R (p.Gln23Arg) variant of RBM10 (RNA-binding protein 10)
Q23R (p.Gln23Arg) 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.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- gnomAD X-47169365-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.05
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.57
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.889
- Literature evidence available