A31S (p.Ala31Ser) variant of RBM20 (RNA-binding protein 20)
A31S (p.Ala31Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- gnomAD 10-110644545-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- MetaLR 0.42
- MetaSVM -0.60
- CADD 17.00
- PolyPhen-2 0.39
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available