S6F (p.Ser6Phe) variant of BRIP1 (Fanconi anemia group J protein)
S6F (p.Ser6Phe) 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 0.45 / 1. The record also includes published literature and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- rs1603368484
- ClinGen CA400486063
- ClinVar RCV001013224
- ClinVar RCV001071716
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.10
- MetaLR 0.38
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.47
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- 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)