S53G (p.Ser53Gly) variant of FUS (RNA-binding protein FUS)
S53G (p.Ser53Gly) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- TOPMed rs1247098643
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.36
- CADD 25.20
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available