N140K (p.Asn140Lys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
N140K (p.Asn140Lys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
N140K (p.Asn140Lys) variant details
- p.Asn140Lys
- rs1804449
- ClinGen CA410037766
- ClinVar RCV000713404
- ClinVar RCV001861989
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.87
- MetaLR 0.99
- MetaSVM 1.08
- CADD 20.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral… (PMID 7887412)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)