D46E (p.Asp46Glu) variant of FUS (RNA-binding protein FUS)
D46E (p.Asp46Glu) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- ExAC rs761920392
- gnomAD rs761920392
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.12
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available