V48F (p.Val48Phe) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V48F (p.Val48Phe) 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 SOD1-related disorder. The record also includes variant effect predictions and structural context.
V48F (p.Val48Phe) variant details
- p.Val48Phe
- Ensembl rs1555836523
- Likely pathogenic
- SOD1-related disorder
- Missense
- MetaLR 0.99
- MetaSVM 0.92
- SIFT 0.00
- ClinVar: Likely pathogenic (SOD1-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available