K118N (p.Lys118Asn) variant of GBA1 (P04062)
K118N (p.Lys118Asn) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K118N (p.Lys118Asn) variant details
- p.Lys118Asn
- rs121908312
- cosmic curated COSV10737
- ClinGen CA221396
- ClinVar RCV000004575
- Pathogenic/Likely pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.54
- CADD 22.30
- PolyPhen-2 0.91
- SIFT 0.11
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (PMID 10796875)
- Cited in: Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. (PMID 12476451)