R116C (p.Arg116Cys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
R116C (p.Arg116Cys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R116C (p.Arg116Cys) variant details
- p.Arg116Cys
- rs1301635320
- ClinGen CA410037590
- cosmic curated COSV54256
- ClinVar RCV002224674
- Conflicting interpretations
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.98
- AlphaMissense 0.77
- MetaLR 1.00
- MetaSVM 0.89
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- 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)