G40R (p.Gly40Arg) variant of FUS (RNA-binding protein FUS)
G40R (p.Gly40Arg) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- gnomAD 16-31182592-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.59
- MetaLR 0.52
- MetaSVM -0.01
- CADD 19.20
- PolyPhen-2 0.41
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available