N227I (p.Asn227Ile) variant of GBA1 (P04062)
N227I (p.Asn227Ile) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
N227I (p.Asn227Ile) variant details
- p.Asn227Ile
- rs364897
- ClinVar RCV004587771
- UniProt VAR 081190
- Pathogenic/Likely pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.43
- PolyPhen-2 0.00
- SIFT 0.24
- EVE 0.17
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD2)
- UniProt: Pathogenic (in GD2)
- Structural context available
- Cited in: Functional analysis of 11 novel GBA alleles. (PMID 24022302)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)