P23L (p.Pro23Leu) variant of BRIP1 (Fanconi anemia group J protein)
P23L (p.Pro23Leu) 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; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs1292425366
- ClinGen CA400485949
- cosmic curated COSV10586
- ClinVar RCV001025781
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.62
- AlphaMissense 0.73
- MetaLR 0.54
- MetaSVM 0.17
- CADD 29.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.1e-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)