E17D (p.Glu17Asp) variant of RBM20 (RNA-binding protein 20)
E17D (p.Glu17Asp) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 10-110644505-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- MetaLR 0.69
- MetaSVM -0.16
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available