A2S (p.Ala2Ser) variant of FUS (RNA-binding protein FUS)
A2S (p.Ala2Ser) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 16-31180218-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.35
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available