K20E (p.Lys20Glu) variant of BRIP1 (Fanconi anemia group J protein)
K20E (p.Lys20Glu) 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; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- rs2545480384
- ClinGen CA400485974
- ClinVar RCV002355679
- ClinVar RCV005215837
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.14
- CADD 24.80
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)