L9Q (p.Leu9Gln) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L9Q (p.Leu9Gln) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- rs1568807342
- ClinGen CA410035909
- ClinVar RCV003050563
- UniProt VAR 013519
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. (PMID 9131652)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)