E27A (p.Glu27Ala) variant of BARD1 (Q99728)
E27A (p.Glu27Ala) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- rs989352819
- ClinGen CA64810363
- ClinVar RCV000559324
- ClinVar RCV000572709
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.18
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)