P525T (p.Pro525Thr) variant of FUS (RNA-binding protein FUS)
P525T (p.Pro525Thr) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
P525T (p.Pro525Thr) variant details
- p.Pro525Thr
- rs1555509699
- ClinGen CA395677540
- ClinVar RCV002913845
- Pathogenic
- Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.71
- PolyPhen-2 0.10
- SIFT 0.00
- MutPred 0.48
- ClinVar: Pathogenic (Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis t)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)