N87K (p.Asn87Lys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
N87K (p.Asn87Lys) 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 variant effect predictions and structural context.
N87K (p.Asn87Lys) variant details
- p.Asn87Lys
- Ensembl rs1555836793
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- MetaLR 1.00
- MetaSVM 1.02
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- UniProt: Pathogenic (in ALS1)
- Structural context available