M4K (p.Met4Lys) variant of BRIP1 (Fanconi anemia group J protein)
M4K (p.Met4Lys) 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 0.30 / 1. The record also includes published literature and structural context.
M4K (p.Met4Lys) variant details
- p.Met4Lys
- rs2078973570
- ClinGen CA400486083
- ClinVar RCV002347134
- ClinVar RCV005227630
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.72
- EVE 0.05
- 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)