E13D (p.Glu13Asp) variant of PALB2 (Partner and localizer of BRCA2)
E13D (p.Glu13Asp) 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 Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- rs876660538
- ClinGen CA395141047
- ClinVar RCV001369054
- TOPMed rs876660538
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.07
- CADD 24.80
- PolyPhen-2 0.47
- SIFT 0.05
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)