A4T (p.Ala4Thr) variant of RBM20 (RNA-binding protein 20)
A4T (p.Ala4Thr) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD 10-110644464-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.43
- MetaLR 0.49
- MetaSVM -0.19
- CADD 27.60
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available