T173I (p.Thr173Ile) variant of GBA1 (P04062)
T173I (p.Thr173Ile) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
T173I (p.Thr173Ile) variant details
- p.Thr173Ile
- rs78657146
- UniProt VAR 032400
- Ensembl rs78657146
- Likely pathogenic
- Gaucher disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.54
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.55
- ClinVar: Likely pathogenic (Gaucher disease; not provided)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- 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: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)