K25* (p.Lys25Ter) variant of PALB2 (Partner and localizer of BRCA2)
K25* (p.Lys25Ter) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K25* (p.Lys25Ter) variant details
- p.Lys25Ter
- rs1248579792
- ClinGen CA395139806
- ClinVar RCV000772890
- ClinVar RCV001030115
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.56
- MetaLR 0.15
- MetaSVM -0.87
- CADD 37.00
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-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)