A5T (p.Ala5Thr) variant of RBM20 (RNA-binding protein 20)
A5T (p.Ala5Thr) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 10-110644467-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.28
- MetaLR 0.47
- MetaSVM -0.54
- CADD 26.90
- PolyPhen-2 0.45
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available