K4E (p.Lys4Glu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
K4E (p.Lys4Glu) 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 not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- rs1568807297
- ClinGen CA410035877
- ClinVar RCV003064620
- ClinVar RCV004700918
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.80
- MetaLR 0.99
- MetaSVM 1.17
- CADD 28.40
- PolyPhen-2 0.50
- SIFT 0.65
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)