E12D (p.Glu12Asp) variant of PALB2 (Partner and localizer of BRCA2)
E12D (p.Glu12Asp) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- rs760609798
- ExAC rs760609798
- TOPMed rs760609798
- gnomAD rs760609798
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.29
- MetaLR 0.06
- MetaSVM -1.08
- PolyPhen-2 0.91
- SIFT 0.18
- MutPred 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Likely benign
- UniProt: Likely benign
- 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)