P72T (p.Pro72Thr) variant of FUS (RNA-binding protein FUS)
P72T (p.Pro72Thr) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P72T (p.Pro72Thr) variant details
- p.Pro72Thr
- ExAC rs753197353
- TOPMed rs753197353
- gnomAD rs753197353
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.62
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available