S44F (p.Ser44Phe) variant of FUS (RNA-binding protein FUS)
S44F (p.Ser44Phe) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- gnomAD 16-31182605-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.41
- MetaLR 0.61
- MetaSVM 0.26
- CADD 23.50
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available