N227S (p.Asn227Ser) variant of GBA1 (P04062)
N227S (p.Asn227Ser) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of autosomal dominant GBA1-related disorders; Gaucher disease type I; Gaucher disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N227S (p.Asn227Ser) variant details
- p.Asn227Ser
- rs364897
- ClinGen CA253086
- cosmic curated COSV10589
- ClinVar RCV000004557
- Uncertain significance
- autosomal dominant GBA1-related disorders; Gaucher disease type I; Gaucher disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.49
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.43
- CADD 19.40
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in GD1 and GD3)
- UniProt: Pathogenic (in GD1 and GD3)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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: Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. (PMID 12204005)