P16L (p.Pro16Leu) variant of RBM20 (RNA-binding protein 20)
P16L (p.Pro16Leu) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- gnomAD 10-110644501-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.28
- MetaLR 0.46
- MetaSVM -0.46
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available