A6V (p.Ala6Val) variant of RBM20 (RNA-binding protein 20)
A6V (p.Ala6Val) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 10-110644471-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.35
- MetaLR 0.57
- MetaSVM -0.07
- CADD 27.40
- PolyPhen-2 0.84
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available