L36* (p.Leu36Ter) variant of BRIP1 (Fanconi anemia group J protein)
L36* (p.Leu36Ter) 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 0.54 / 1. The record also includes published literature and structural context.
L36* (p.Leu36Ter) variant details
- p.Leu36Ter
- rs1060501767
- ClinGen CA400485861
- ClinVar RCV003335703
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.96
- MetaLR 0.41
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- 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)