V149I (p.Val149Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V149I (p.Val149Ile) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V149I (p.Val149Ile) variant details
- p.Val149Ile
- rs567511139
- ClinGen CA9998986
- ClinVar RCV002293058
- ClinVar RCV003517366
- Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.75
- MetaLR 0.98
- MetaSVM 1.06
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.12
- ClinVar: Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. (PMID 7795609)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)