Y14N (p.Tyr14Asn) variant of FUS (RNA-binding protein FUS)
Y14N (p.Tyr14Asn) 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 Amyotrophic lateral sclerosis type 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
Y14N (p.Tyr14Asn) variant details
- p.Tyr14Asn
- rs2079194587
- ClinGen CA395664566
- ClinVar RCV001120231
- Ensembl rs2079194587
- Uncertain significance
- Amyotrophic lateral sclerosis type 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- AlphaMissense 0.46
- MetaLR 0.73
- MetaSVM 0.60
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)