V15M (p.Val15Met) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V15M (p.Val15Met) 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 Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- rs1568807400
- ClinGen CA410036005
- ClinVar RCV001095542
- UniProt VAR 007133
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.72
- MetaLR 1.00
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. (PMID 7655471)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)