R86* (p.Arg86Ter) variant of GBA1 (P04062)
R86* (p.Arg86Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R86* (p.Arg86Ter) variant details
- p.Arg86Ter
- rs1671987417
- ClinGen CA342727218
- NCI-TCGA Cosmic COSV5916
- cosmic curated COSV59169
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-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)