K14* (p.Lys14Ter) variant of BRIP1 (Fanconi anemia group J protein)
K14* (p.Lys14Ter) 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.
K14* (p.Lys14Ter) variant details
- p.Lys14Ter
- rs1555618727
- ClinGen CA400486016
- ClinVar RCV001021864
- ClinVar RCV003316749
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.30
- MetaLR 0.18
- MetaSVM -0.88
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.61
- 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)