K510E (p.Lys510Glu) variant of FUS (RNA-binding protein FUS)
K510E (p.Lys510Glu) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
K510E (p.Lys510Glu) variant details
- p.Lys510Glu
- rs1555509605
- ClinGen CA395676061
- ClinVar RCV003783685
- ClinVar RCV004790605
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 6; Tremor, here)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)