I15V (p.Ile15Val) variant of BRIP1 (Fanconi anemia group J protein)
I15V (p.Ile15Val) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- rs1567878177
- ClinGen CA400486009
- ClinVar RCV000698912
- ClinVar RCV005532741
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.93
- PolyPhen-2 0.91
- SIFT 0.43
- EVE 0.23
- ClinVar: Uncertain significance (Fanconi anemia complementation group J; Familial cancer of breas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)