Q23L (p.Gln23Leu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
Q23L (p.Gln23Leu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- rs1169198442
- ClinGen CA410036099
- ClinVar RCV001095543
- UniProt VAR 045877
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 1.13
- PolyPhen-2 0.12
- SIFT 0.01
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of… (PMID 14506936)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)