P21T (p.Pro21Thr) variant of FUS (RNA-binding protein FUS)
P21T (p.Pro21Thr) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- gnomAD rs1319178925
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.44
- CADD 23.50
- PolyPhen-2 0.39
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available