L39V (p.Leu39Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L39V (p.Leu39Val) 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 not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- rs121912432
- ClinGen CA257313
- ClinVar RCV000015875
- ClinVar RCV000997816
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.54
- MetaLR 0.99
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.39
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. (PMID 8351519)
- Cited in: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. (PMID 8446170)