P33Q (p.Pro33Gln) variant of RBM20 (RNA-binding protein 20)
P33Q (p.Pro33Gln) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P33Q (p.Pro33Gln) variant details
- p.Pro33Gln
- gnomAD 10-110644552-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.20
- MetaLR 0.42
- MetaSVM -0.50
- CADD 19.30
- PolyPhen-2 0.10
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available