S13S (p.Ser13Ser) variant of FUS (RNA-binding protein FUS)
S13S (p.Ser13Ser) in FUS (RNA-binding protein FUS) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S13S (p.Ser13Ser) variant details
- p.Ser13Ser
- rs1159077451
- gnomAD 16-31182513-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 16.20
- Population evidence available
- Structural context available
- Literature evidence available