D5A (p.Asp5Ala) variant of FUS (RNA-binding protein FUS)
D5A (p.Asp5Ala) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D5A (p.Asp5Ala) variant details
- p.Asp5Ala
- gnomAD 16-31182398-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.39
- CADD 26.10
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available