V15L (p.Val15Leu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V15L (p.Val15Leu) 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.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- rs1568807400
- ClinGen CA410036007
- ClinVar RCV002029618
- Ensembl rs1568807400
- 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: 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)