P18L (p.Pro18Leu) variant of BRIP1 (Fanconi anemia group J protein)
P18L (p.Pro18Leu) 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 Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs1415589484
- ClinGen CA400485985
- ClinVar RCV002040423
- ClinVar RCV004947037
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.76
- CADD 31.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)