Q25* (p.Gln25Ter) variant of BRIP1 (Fanconi anemia group J protein)
Q25* (p.Gln25Ter) in BRIP1 (Fanconi anemia group J protein) 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 0.81 / 1. The record also includes published literature and structural context.
Q25* (p.Gln25Ter) variant details
- p.Gln25Ter
- rs2078971612
- ClinGen CA400485940
- NCI-TCGA Cosmic COSV9936
- cosmic curated COSV99369
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.64
- MetaLR 0.80
- MetaSVM 0.81
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.74
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)