T11A (p.Thr11Ala) variant of FUS (RNA-binding protein FUS)
T11A (p.Thr11Ala) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- rs750230722
- ClinGen CA8023413
- ClinVar RCV000517990
- ExAC rs750230722
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.24
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available