H47R (p.His47Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H47R (p.His47Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
H47R (p.His47Arg) variant details
- p.His47Arg
- rs121912443
- ClinGen CA257335
- ClinVar RCV000015886
- ClinVar RCV000281824
- Pathogenic
- not provided; Amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis type
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.86
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis; Amyotrophic lateral)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)
- Cited in: Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial… (PMID 10889018)