R116H (p.Arg116His) variant of SOD1 (Superoxide dismutase [Cu-Zn])
R116H (p.Arg116His) 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 Spastic tetraplegia and axial hypotonia, progressive; not provided; Amyotrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R116H (p.Arg116His) variant details
- p.Arg116His
- rs1240334553
- ClinGen CA410037591
- NCI-TCGA Cosmic COSV5425
- Conflicting interpretations
- Spastic tetraplegia and axial hypotonia, progressive; not provided; Amyotrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 0.89
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Spastic tetraplegia and axial hypotonia, progressive; not provid)
- EBI: Likely pathogenic (in ALS1)
- UniProt: Likely pathogenic (in ALS1)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)