A4E (p.Ala4Glu) variant of RBM20 (RNA-binding protein 20)
A4E (p.Ala4Glu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- gnomAD 10-110644465-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.45
- MetaLR 0.53
- MetaSVM -0.13
- CADD 25.50
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available