Q40* (p.Gln40Ter) variant of BRIP1 (Fanconi anemia group J protein)
Q40* (p.Gln40Ter) 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 0.43 / 1. The record also includes published literature and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- rs2145852357
- ClinGen CA400485835
- ClinVar RCV002791583
- ClinVar RCV003167794
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.12
- MetaLR 0.24
- MetaSVM -0.77
- PolyPhen-2 0.73
- SIFT 0.06
- EVE 0.66
- 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)