E3Q (p.Glu3Gln) variant of PALB2 (Partner and localizer of BRCA2)
E3Q (p.Glu3Gln) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- rs878855123
- ClinGen CA16615131
- ClinVar RCV000469584
- Ensembl rs878855123
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.19
- MetaLR 0.08
- MetaSVM -1.05
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.19
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)