p.Ser54 Ser61del variant of FUS (RNA-binding protein FUS)
p.Ser54 Ser61del in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser54 Ser61del variant details
- gnomAD 16-31182621-CTATG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 22.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available