E19D (p.Glu19Asp) variant of BARD1 (Q99728)
E19D (p.Glu19Asp) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BARD1-related cancer predisposition; not provided; Hereditary cancer-predisposin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- rs730881406
- ClinGen CA16617461
- ClinVar RCV000486017
- ClinVar RCV000525385
- Uncertain significance
- BARD1-related cancer predisposition; not provided; Hereditary cancer-predisposin
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.25
- CADD 18.30
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (BARD1-related cancer predisposition; not provided; Hereditary ca)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- 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)