A5V (p.Ala5Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A5V (p.Ala5Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs121912442
- ClinGen CA257333
- ClinVar RCV000015885
- ClinVar RCV000518025
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.85
- MetaLR 0.99
- MetaSVM 1.05
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.14
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)
- Cited in: ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. (PMID 12963370)