A23D (p.Ala23Asp) variant of RBM20 (RNA-binding protein 20)
A23D (p.Ala23Asp) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- gnomAD 10-110644522-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.43
- MetaLR 0.77
- MetaSVM 0.27
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available