P525L (p.Pro525Leu) variant of FUS (RNA-binding protein FUS)
P525L (p.Pro525Leu) 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 Juvenile amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis type 6; Tr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
P525L (p.Pro525Leu) variant details
- p.Pro525Leu
- rs886041390
- ClinGen CA10603390
- ClinVar RCV000381069
- ClinVar RCV001069729
- Pathogenic
- Juvenile amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis type 6; Tr
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.78
- PolyPhen-2 0.38
- SIFT 0.00
- MutPred 0.75
- ClinVar: Pathogenic (Juvenile amyotrophic lateral sclerosis; Amyotrophic lateral scle)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Structural context available
- Cited in: Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. (PMID 19251627)
- Cited in: Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. (PMID 19251628)