S30I (p.Ser30Ile) variant of FUS (RNA-binding protein FUS)
S30I (p.Ser30Ile) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S30I (p.Ser30Ile) variant details
- p.Ser30Ile
- Ensembl rs2144101617
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.29
- CADD 7.19
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available