A2T (p.Ala2Thr) variant of FUS (RNA-binding protein FUS)
A2T (p.Ala2Thr) 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 and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1429657204
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.39
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available