E3* (p.Glu3Ter) variant of PALB2 (Partner and localizer of BRCA2)
E3* (p.Glu3Ter) in PALB2 (Partner and localizer of BRCA2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- rs878855123
- ClinGen CA10583388
- ClinVar RCV000231797
- ClinVar RCV000582525
- Pathogenic
- Stop Gained
- 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
- 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)