V15G (p.Val15Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V15G (p.Val15Gly) 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 Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
V15G (p.Val15Gly) variant details
- p.Val15Gly
- rs1202989817
- ClinGen CA410036010
- ClinVar RCV002016007
- UniProt VAR 013522
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.56
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. (PMID 9365366)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)