I19F (p.Ile19Phe) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I19F (p.Ile19Phe) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 1. The record also includes published literature and structural context.
I19F (p.Ile19Phe) variant details
- p.Ile19Phe
- rs2516654131
- ClinGen CA410036042
- ClinVar RCV002828336
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)