S57F (p.Ser57Phe) variant of FUS (RNA-binding protein FUS)
S57F (p.Ser57Phe) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- Ensembl rs12446646
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.63
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available