P38T (p.Pro38Thr) variant of RBM20 (RNA-binding protein 20)
P38T (p.Pro38Thr) 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.
P38T (p.Pro38Thr) variant details
- p.Pro38Thr
- gnomAD 10-110644566-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.22
- MetaLR 0.44
- MetaSVM -0.54
- CADD 21.00
- PolyPhen-2 0.23
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available