K14N (p.Lys14Asn) variant of BRIP1 (Fanconi anemia group J protein)
K14N (p.Lys14Asn) 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 0.38 / 1. The record also includes published literature and structural context.
K14N (p.Lys14Asn) variant details
- p.Lys14Asn
- rs2078972704
- ClinGen CA400486012
- ClinVar RCV001948389
- ClinVar RCV003303437
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast; Fanconi anem
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.46
- MetaLR 0.18
- MetaSVM -0.93
- PolyPhen-2 0.97
- SIFT 0.11
- EVE 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Benign
- UniProt: Benign
- 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)