E101G (p.Glu101Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E101G (p.Glu101Gly) 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 Motor neuron disease; not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
E101G (p.Glu101Gly) variant details
- p.Glu101Gly
- rs121912439
- ClinGen CA257329
- ClinVar RCV000015883
- ClinVar RCV000492233
- Pathogenic
- Motor neuron disease; not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.25
- MetaLR 0.98
- MetaSVM 1.31
- PolyPhen-2 0.44
- SIFT 0.07
- EVE 0.24
- ClinVar: Pathogenic (Motor neuron disease; not provided; Amyotrophic lateral sclerosi)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Decreased thermal stability of red blood cell glu100-->gly superoxide dismutase from a family with amyotrophic lateral… (PMID 7635196)
- Cited in: Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. (PMID 8351519)