L3V (p.Leu3Val) variant of RBM20 (RNA-binding protein 20)
L3V (p.Leu3Val) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- gnomAD 10-110644461-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.24
- MetaLR 0.46
- MetaSVM -0.50
- CADD 22.90
- PolyPhen-2 0.70
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available