Y14F (p.Tyr14Phe) variant of FUS (RNA-binding protein FUS)
Y14F (p.Tyr14Phe) 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.
Y14F (p.Tyr14Phe) variant details
- p.Tyr14Phe
- gnomAD 16-31182515-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.39
- CADD 26.10
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available