A29V (p.Ala29Val) variant of RBM20 (RNA-binding protein 20)
A29V (p.Ala29Val) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 10-110644540-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.18
- MetaLR 0.31
- MetaSVM -0.79
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available