Q23P (p.Gln23Pro) variant of SOD1 (Superoxide dismutase [Cu-Zn])
Q23P (p.Gln23Pro) 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 0.85 / 1. The record also includes published literature and structural context.
Q23P (p.Gln23Pro) variant details
- p.Gln23Pro
- rs1169198442
- ClinGen CA410036097
- ClinVar RCV003628666
- 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: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Likely pathogenic (in ALS1)
- UniProt: Likely pathogenic (in ALS1)
- 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)