Q23H (p.Gln23His) variant of SOD1 (Superoxide dismutase [Cu-Zn])
Q23H (p.Gln23His) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SOD1-related disorder; not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- rs1424217272
- gnomAD rs1424217272
- ClinGen CA410036102
- ClinVar RCV002020327
- Conflicting interpretations
- SOD1-related disorder; not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.81
- MetaLR 0.99
- MetaSVM 1.04
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (SOD1-related disorder; not provided; Amyotrophic lateral scleros)
- EBI: Likely pathogenic (in ALS1)
- UniProt: Likely pathogenic (in ALS1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients… (PMID 16324086)
- Cited in: Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with… (PMID 17653917)