S31F (p.Ser31Phe) variant of BRIP1 (Fanconi anemia group J protein)
S31F (p.Ser31Phe) 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 0.47 / 1. The record also includes published literature and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- rs2078971136
- ClinGen CA400485894
- ClinVar RCV001192043
- ClinVar RCV006557178
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.45
- MetaLR 0.41
- MetaSVM -0.25
- PolyPhen-2 0.88
- SIFT 0.07
- EVE 0.28
- 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)