R30L (p.Arg30Leu) variant of RBM20 (RNA-binding protein 20)
R30L (p.Arg30Leu) 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, published literature, and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- gnomAD 10-110644543-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.30
- MetaLR 0.40
- MetaSVM -0.64
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available