S60N (p.Ser60Asn) variant of SOD1 (Superoxide dismutase [Cu-Zn])
S60N (p.Ser60Asn) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S60N (p.Ser60Asn) variant details
- p.Ser60Asn
- rs1413388444
- ClinGen CA410037220
- ClinVar RCV003630041
- TOPMed rs1413388444
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.88
- MetaLR 1.00
- MetaSVM 0.92
- CADD 25.40
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)