A29P (p.Ala29Pro) variant of RBM20 (RNA-binding protein 20)
A29P (p.Ala29Pro) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- gnomAD 10-110644539-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.24
- MetaLR 0.47
- MetaSVM -0.46
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available