L21* (p.Leu21Ter) variant of PALB2 (Partner and localizer of BRCA2)
L21* (p.Leu21Ter) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L21* (p.Leu21Ter) variant details
- p.Leu21Ter
- rs769240800
- ClinGen CA7963863
- ClinVar RCV000507280
- ClinVar RCV000535566
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)