V2M (p.Val2Met) variant of RBM20 (RNA-binding protein 20)
V2M (p.Val2Met) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V2M (p.Val2Met) variant details
- p.Val2Met
- gnomAD 10-110644458-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.33
- MetaLR 0.61
- MetaSVM -0.13
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available