A6D (p.Ala6Asp) variant of RBM20 (RNA-binding protein 20)
A6D (p.Ala6Asp) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- gnomAD 10-110644471-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.39
- MetaLR 0.63
- MetaSVM 0.04
- CADD 27.60
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available