L107V (p.Leu107Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L107V (p.Leu107Val) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SOD1-related disorder; not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
L107V (p.Leu107Val) variant details
- p.Leu107Val
- rs121912440
- ClinGen CA257321
- ClinVar RCV000015879
- ClinVar RCV003390685
- Pathogenic
- SOD1-related disorder; not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.44
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.33
- ClinVar: Pathogenic (SOD1-related disorder; not provided; Amyotrophic lateral scleros)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Leu106-->Val (CTC-->GTC) mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis… (PMID 7911198)
- Cited in: Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. (PMID 8351519)