A4V (p.Ala4Val) variant of RBM20 (RNA-binding protein 20)
A4V (p.Ala4Val) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 10-110644465-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.15
- MetaLR 0.43
- MetaSVM -0.51
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available