T82I (p.Thr82Ile) variant of GBA1 (P04062)
T82I (p.Thr82Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T82I (p.Thr82Ile) variant details
- p.Thr82Ile
- rs1141811
- UniProt VAR 003257
- ExAC rs1141811
- TOPMed rs1141811
- Pathogenic/Likely pathogenic
- Gaucher disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.61
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease; not provided)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Five new Gaucher disease mutations. (PMID 7655857)
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)