V48I (p.Val48Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V48I (p.Val48Ile) 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 not provided; Amyotrophic lateral sclerosis type 1. The record also includes structural context.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- Ensembl rs1555836523
- Uncertain significance
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- ClinVar: Uncertain significance (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available