A5E (p.Ala5Glu) variant of RBM20 (RNA-binding protein 20)
A5E (p.Ala5Glu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 10-110644468-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.30
- MetaLR 0.49
- MetaSVM -0.44
- CADD 21.10
- PolyPhen-2 0.04
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available