D125V (p.Asp125Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
D125V (p.Asp125Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D125V (p.Asp125Val) variant details
- p.Asp125Val
- rs1568811366
- ClinGen CA410037660
- ClinVar RCV001378934
- ClinVar RCV002255185
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.99
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral… (PMID 8938700)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)