P23R (p.Pro23Arg) variant of BRIP1 (Fanconi anemia group J protein)
P23R (p.Pro23Arg) 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 0.62 / 1. The record also includes published literature and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs1292425366
- ClinGen CA400485950
- ClinVar RCV003804024
- TOPMed rs1292425366
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.73
- MetaLR 0.54
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.76
- 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)