S57del (p.Ser57del) variant of FUS (RNA-binding protein FUS)
S57del (p.Ser57del) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S57del (p.Ser57del) variant details
- rs777545405
- gnomAD 16-31182638-ATTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available