E15* (p.Glu15Ter) variant of PALB2 (Partner and localizer of BRCA2)
E15* (p.Glu15Ter) 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 0.30 / 1. The record also includes published literature and structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- rs730881884
- ClinGen CA299713
- ClinVar RCV000160835
- ClinVar RCV000567534
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.35
- MetaLR 0.07
- MetaSVM -1.01
- PolyPhen-2 0.18
- SIFT 0.00
- MutPred 0.14
- 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)