A23T (p.Ala23Thr) variant of RBM20 (RNA-binding protein 20)
A23T (p.Ala23Thr) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD 10-110644521-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.35
- MetaLR 0.73
- MetaSVM 0.07
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available