E101K (p.Glu101Lys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E101K (p.Glu101Lys) 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 not provided; Amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
E101K (p.Glu101Lys) variant details
- p.Glu101Lys
- rs76731700
- ClinGen CA410037495
- ClinVar RCV000696225
- ClinVar RCV000713400
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis; Amyotrophic lateral sclerosis type
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.15
- MetaLR 0.93
- MetaSVM 1.21
- PolyPhen-2 0.00
- SIFT 0.45
- EVE 0.08
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis; Amyotrophic lateral)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? (PMID 20460594)
- Cited in: Genetics of amyotrophic lateral sclerosis. (PMID 8875253)