A11E (p.Ala11Glu) variant of RBM20 (RNA-binding protein 20)
A11E (p.Ala11Glu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- gnomAD 10-110644486-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.41
- MetaLR 0.55
- MetaSVM -0.25
- CADD 23.80
- PolyPhen-2 0.75
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available