Q112* (p.Gln112Ter) variant of GBA1 (P04062)
Q112* (p.Gln112Ter) in GBA1 (P04062) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q112* (p.Gln112Ter) variant details
- p.Gln112Ter
- rs1671974195
- ClinGen CA342726461
- ClinVar RCV001264492
- Ensembl rs1671974195
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)