L24* (p.Leu24Ter) variant of BRCA2 (P51587)
L24* (p.Leu24Ter) in BRCA2 (P51587) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
L24* (p.Leu24Ter) variant details
- p.Leu24Ter
- rs397507902
- ClinGen CA10589004
- ClinVar RCV000257036
- ClinVar RCV001056537
- Pathogenic
- Stop Gained
- AlphaMissense 0.64
- MetaLR 0.04
- MetaSVM -1.19
- SIFT 0.00
- MutPred 0.33
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)