S30N (p.Ser30Asn) variant of FUS (RNA-binding protein FUS)
S30N (p.Ser30Asn) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- gnomAD 16-31182563-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.15
- CADD 3.49
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available