L9V (p.Leu9Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L9V (p.Leu9Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 1; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- rs1568807333
- ClinGen CA410035908
- ClinVar RCV001939974
- ClinVar RCV006266953
- Uncertain significance
- Amyotrophic lateral sclerosis type 1; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.70
- MetaLR 0.97
- MetaSVM 1.05
- CADD 23.30
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1; not specified)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of… (PMID 14506936)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)