V120L (p.Val120Leu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V120L (p.Val120Leu) 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; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V120L (p.Val120Leu) variant details
- p.Val120Leu
- rs1457889952
- ClinGen CA410037621
- ClinVar RCV001978284
- ClinVar RCV002252747
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 1; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.79
- MetaLR 0.98
- MetaSVM 1.14
- CADD 25.10
- PolyPhen-2 0.23
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 1; See cases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients… (PMID 16324086)
- Cited in: Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with… (PMID 17653917)