P18A (p.Pro18Ala) variant of BRIP1 (Fanconi anemia group J protein)
P18A (p.Pro18Ala) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- rs1555618724
- ClinGen CA400485987
- ClinVar RCV002344579
- ClinVar RCV003776083
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.55
- AlphaMissense 0.94
- MetaLR 0.53
- MetaSVM 0.23
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group J; Familial cancer of breas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)