R521H (p.Arg521His) variant of FUS (RNA-binding protein FUS)
R521H (p.Arg521His) 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; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R521H (p.Arg521His) variant details
- p.Arg521His
- rs121909671
- ClinGen CA257443
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99568
- Pathogenic
- Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.61
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.52
- CADD 24.40
- PolyPhen-2 0.05
- ClinVar: Pathogenic (Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis t)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Population evidence available
- 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)