T19S (p.Thr19Ser) variant of FUS (RNA-binding protein FUS)
T19S (p.Thr19Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- gnomAD rs1310122649
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.19
- CADD 21.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available