R30Q (p.Arg30Gln) variant of RBM20 (RNA-binding protein 20)
R30Q (p.Arg30Gln) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- gnomAD rs1195390759
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.31
- MetaLR 0.36
- MetaSVM -0.65
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available