S3* (p.Ser3Ter) variant of BRIP1 (Fanconi anemia group J protein)
S3* (p.Ser3Ter) 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 0.42 / 1. The record also includes published literature and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- rs1603368491
- Ensembl rs1603368491
- ClinGen CA400486087
- ClinVar RCV001306224
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.13
- MetaLR 0.40
- MetaSVM -0.35
- PolyPhen-2 0.53
- SIFT 0.00
- EVE 0.26
- 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)