N20I (p.Asn20Ile) variant of SOD1 (Superoxide dismutase [Cu-Zn])
N20I (p.Asn20Ile) 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 0.54 / 1. The record also includes published literature and structural context.
N20I (p.Asn20Ile) variant details
- p.Asn20Ile
- rs768029813
- ClinGen CA410036059
- ClinVar RCV003630996
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.09
- MetaLR 0.87
- MetaSVM 0.50
- PolyPhen-2 0.00
- SIFT 0.40
- EVE 0.11
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)