P27T (p.Pro27Thr) variant of RBM20 (RNA-binding protein 20)
P27T (p.Pro27Thr) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- gnomAD 10-110644533-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.15
- MetaLR 0.43
- MetaSVM -0.55
- CADD 18.00
- PolyPhen-2 0.28
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available