H49D (p.His49Asp) variant of SOD1 (Superoxide dismutase [Cu-Zn])
H49D (p.His49Asp) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in ALS1. The record also includes structural context.
H49D (p.His49Asp) variant details
- p.His49Asp
- NCI-TCGA Cosmic COSV5425
- cosmic curated COSV54255
- Variant assessed as somatic; moderate impact.
- in ALS1
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in ALS1)
- Structural context available