D20G (p.Asp20Gly) variant of RBM20 (RNA-binding protein 20)
D20G (p.Asp20Gly) 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.
D20G (p.Asp20Gly) variant details
- p.Asp20Gly
- gnomAD 10-110644513-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.39
- MetaLR 0.58
- MetaSVM -0.21
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available