A11S (p.Ala11Ser) variant of RBM20 (RNA-binding protein 20)
A11S (p.Ala11Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- gnomAD 10-110644485-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.29
- MetaLR 0.42
- MetaSVM -0.61
- CADD 23.00
- PolyPhen-2 0.48
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available