S2F (p.Ser2Phe) variant of BRIP1 (Fanconi anemia group J protein)
S2F (p.Ser2Phe) 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 0.50 / 1. The record also includes published literature and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- rs751194347
- ClinGen CA292281864
- cosmic curated COSV51998
- ClinVar RCV000562127
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.12
- MetaLR 0.58
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.29
- 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)