H49Q (p.His49Gln) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H49Q (p.His49Gln) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ALS1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
H49Q (p.His49Gln) variant details
- p.His49Gln
- rs1568809175
- UniProt VAR 007142
- Ensembl rs1568809175
- Pathogenic
- in ALS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- 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: Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. (PMID 8528216)