Q23R (p.Gln23Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
Q23R (p.Gln23Arg) 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 0.67 / 1. The record also includes population frequency data and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- TOPMed rs1169198442
- gnomAD rs1169198442
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.79
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 1.13
- CADD 25.50
- PolyPhen-2 0.12
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available