L39Q (p.Leu39Gln) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L39Q (p.Leu39Gln) 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 0.93 / 1. The record also includes published literature and structural context.
L39Q (p.Leu39Gln) variant details
- p.Leu39Gln
- rs1555836520
- ClinGen CA410036655
- ClinVar RCV003041393
- Ensembl rs1555836520
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Likely pathogenic (in ALS1)
- UniProt: Likely 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)