N87D (p.Asn87Asp) variant of SOD1 (Superoxide dismutase [Cu-Zn])
N87D (p.Asn87Asp) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided; Amyotrophic lateral sclerosis type 1. The record also includes structural context.
N87D (p.Asn87Asp) variant details
- p.Asn87Asp
- Ensembl rs1555836792
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- UniProt: Pathogenic (in ALS1)
- Structural context available