Q36* (p.Gln36Ter) variant of PALB2 (Partner and localizer of BRCA2)
Q36* (p.Gln36Ter) 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 0.39 / 1. The record also includes published literature and structural context.
Q36* (p.Gln36Ter) variant details
- p.Gln36Ter
- rs757369748
- ClinGen CA16609607
- ClinVar RCV000454301
- ClinVar RCV000657579
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.16
- MetaLR 0.14
- MetaSVM -0.75
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.49
- 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)