P18S (p.Pro18Ser) variant of BRIP1 (Fanconi anemia group J protein)
P18S (p.Pro18Ser) 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 0.65 / 1. The record also includes published literature and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs1555618724
- ClinGen CA400485986
- ClinVar RCV000542420
- ClinVar RCV000564557
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.94
- MetaLR 0.53
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- 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)