A6S (p.Ala6Ser) variant of RBM20 (RNA-binding protein 20)
A6S (p.Ala6Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 10-110644470-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.27
- MetaLR 0.51
- MetaSVM -0.39
- CADD 25.30
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available