A5S (p.Ala5Ser) variant of RBM20 (RNA-binding protein 20)
A5S (p.Ala5Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 10-110644467-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.25
- MetaLR 0.46
- MetaSVM -0.51
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available