A31E (p.Ala31Glu) variant of RBM20 (RNA-binding protein 20)
A31E (p.Ala31Glu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- gnomAD 10-110644546-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.20
- MetaLR 0.41
- MetaSVM -0.57
- CADD 23.20
- PolyPhen-2 0.73
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available