P19Q (p.Pro19Gln) variant of RBM20 (RNA-binding protein 20)
P19Q (p.Pro19Gln) 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.
P19Q (p.Pro19Gln) variant details
- p.Pro19Gln
- gnomAD 10-110644510-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.30
- MetaLR 0.58
- MetaSVM -0.25
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available