G80D (p.Gly80Asp) variant of FUS (RNA-binding protein FUS)
G80D (p.Gly80Asp) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G80D (p.Gly80Asp) variant details
- p.Gly80Asp
- gnomAD 16-31183906-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.51
- MetaLR 0.70
- MetaSVM 0.46
- CADD 25.90
- PolyPhen-2 0.55
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available