Q40P (p.Gln40Pro) variant of BRIP1 (Fanconi anemia group J protein)
Q40P (p.Gln40Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q40P (p.Gln40Pro) variant details
- p.Gln40Pro
- rs2078951315
- ClinGen CA400485832
- ClinVar RCV001320650
- Ensembl rs2078951315
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.47
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group J; Familial cancer of breas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)