V26L (p.Val26Leu) variant of RBM20 (RNA-binding protein 20)
V26L (p.Val26Leu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V26L (p.Val26Leu) variant details
- p.Val26Leu
- gnomAD 10-110644530-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.23
- MetaLR 0.39
- MetaSVM -0.70
- CADD 17.70
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available