E19* (p.Glu19Ter) variant of PALB2 (Partner and localizer of BRCA2)
E19* (p.Glu19Ter) 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 0.34 / 1. The record also includes published literature and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- rs2142461160
- ClinGen CA395139966
- ClinVar RCV003450472
- Ensembl rs2142461160
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.16
- MetaLR 0.06
- MetaSVM -0.95
- PolyPhen-2 0.74
- SIFT 0.05
- EVE 0.37
- 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)