Y6D (p.Tyr6Asp) variant of FUS (RNA-binding protein FUS)
Y6D (p.Tyr6Asp) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y6D (p.Tyr6Asp) variant details
- p.Tyr6Asp
- gnomAD 16-31182400-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.69
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available