K39N (p.Lys39Asn) variant of BRIP1 (Fanconi anemia group J protein)
K39N (p.Lys39Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
K39N (p.Lys39Asn) variant details
- p.Lys39Asn
- rs2145852394
- ClinGen CA400485837
- ClinVar RCV002257007
- Ensembl rs2145852394
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.02
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)