P19S (p.Pro19Ser) variant of RBM20 (RNA-binding protein 20)
P19S (p.Pro19Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- gnomAD 10-110644509-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.24
- MetaLR 0.49
- MetaSVM -0.50
- CADD 22.70
- PolyPhen-2 0.62
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available