A18G (p.Ala18Gly) variant of RBM10 (RNA-binding protein 10)
A18G (p.Ala18Gly) in RBM10 (RNA-binding protein 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- Ensembl rs2147127864
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.05
- CADD 23.10
- PolyPhen-2 0.33
- SIFT 0.17
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.837