P38S (p.Pro38Ser) variant of RBM20 (RNA-binding protein 20)
P38S (p.Pro38Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- gnomAD 10-110644566-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.20
- MetaLR 0.44
- MetaSVM -0.54
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available