E19K (p.Glu19Lys) variant of BARD1 (Q99728)
E19K (p.Glu19Lys) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs752514155
- ClinGen CA350465244
- ClinVar RCV000635706
- ClinVar RCV001024312
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.22
- CADD 5.32
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-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)