W36* (p.Trp36Ter) variant of GBA1 (P04062)
W36* (p.Trp36Ter) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
W36* (p.Trp36Ter) variant details
- p.Trp36Ter
- rs777383151
- ClinGen CA1141857
- ClinVar RCV001251352
- ExAC rs777383151
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)