N20S (p.Asn20Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
N20S (p.Asn20Ser) 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 specified; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- rs768029813
- ClinGen CA9998859
- ClinVar RCV000611073
- ClinVar RCV000689563
- Conflicting interpretations
- not specified; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.30
- AlphaMissense 0.09
- MetaLR 0.87
- MetaSVM 0.50
- CADD 13.40
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Amyotrophic lateral sclerosis type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)