P35L (p.Pro35Leu) variant of RBM20 (RNA-binding protein 20)
P35L (p.Pro35Leu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- gnomAD 10-110644558-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.18
- MetaLR 0.51
- MetaSVM -0.41
- CADD 25.10
- PolyPhen-2 0.82
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available