Y14C (p.Tyr14Cys) variant of FUS (RNA-binding protein FUS)
Y14C (p.Tyr14Cys) 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 FUS-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y14C (p.Tyr14Cys) variant details
- p.Tyr14Cys
- rs758073877
- ClinGen CA8023435
- ClinVar RCV003420751
- ExAC rs758073877
- Uncertain significance
- FUS-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.59
- CADD 28.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (FUS-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available