Q12H (p.Gln12His) variant of FUS (RNA-binding protein FUS)
Q12H (p.Gln12His) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- gnomAD 16-31182420-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.45
- CADD 32.00
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available