L3M (p.Leu3Met) variant of RBM20 (RNA-binding protein 20)
L3M (p.Leu3Met) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- gnomAD 10-110644461-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.28
- MetaLR 0.59
- MetaSVM -0.29
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available