A23S (p.Ala23Ser) variant of RBM20 (RNA-binding protein 20)
A23S (p.Ala23Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 10-110644521-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.34
- MetaLR 0.73
- MetaSVM 0.02
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available