N227K (p.Asn227Lys) variant of GBA1 (P04062)
N227K (p.Asn227Lys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease type III; Gaucher disease type I; Gaucher disease type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N227K (p.Asn227Lys) variant details
- p.Asn227Lys
- rs381418
- ClinGen CA221409
- cosmic curated COSV10609
- ClinVar RCV000079353
- Pathogenic
- Gaucher disease type III; Gaucher disease type I; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.59
- CADD 17.40
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. (PMID 10649495)
- Cited in: Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal… (PMID 9683600)