N501K (p.Asn501Lys) variant of GBA1 (P04062)
N501K (p.Asn501Lys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Gaucher disease; Gaucher disease type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
N501K (p.Asn501Lys) variant details
- p.Asn501Lys
- rs755265316
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- ClinGen CA342710805
- Likely pathogenic
- not provided; Gaucher disease; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Gaucher disease; Gaucher disease type II)
- EBI: Pathogenic (in GD2)
- UniProt: Pathogenic (in GD2)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Mutation analysis in 46 British and Irish patients with Gaucher's disease. (PMID 9279145)
- Cited in: Gaucher Disease. (PMID 20301446)