D12Y (p.Asp12Tyr) variant of RBM20 (RNA-binding protein 20)
D12Y (p.Asp12Tyr) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- gnomAD 10-110644488-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.41
- MetaLR 0.63
- MetaSVM -0.11
- CADD 28.30
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available