T362I (p.Thr362Ile) variant of GBA1 (P04062)
T362I (p.Thr362Ile) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lewy body dementia; Gaucher disease type I; Gaucher disease type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T362I (p.Thr362Ile) variant details
- p.Thr362Ile
- rs76539814
- ClinGen CA253074
- cosmic curated COSV59171
- ClinVar RCV000004548
- Pathogenic/Likely pathogenic
- Lewy body dementia; Gaucher disease type I; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.70
- CADD 24.90
- PolyPhen-2 0.68
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Lewy body dementia; Gaucher disease type I; Gaucher disease type)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. (PMID 1301953)
- Cited in: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (PMID 16293621)