G73C (p.Gly73Cys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G73C (p.Gly73Cys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G73C (p.Gly73Cys) variant details
- p.Gly73Cys
- cosmic curated COSV99532
- ExAC rs121912455
- gnomAD rs121912455
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 0.90
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Likely pathogenic (in ALS1)
- UniProt: Likely pathogenic (in ALS1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available