A16S (p.Ala16Ser) variant of FUS (RNA-binding protein FUS)
A16S (p.Ala16Ser) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 16-31182520-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.30
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available