H517N (p.His517Asn) variant of FUS (RNA-binding protein FUS)
H517N (p.His517Asn) 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; Tremor, hereditary essential, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
H517N (p.His517Asn) variant details
- p.His517Asn
- rs1482400225
- ClinGen CA395677320
- cosmic curated COSV54217
- ClinVar RCV003793816
- Uncertain significance
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.79
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)