L29F (p.Leu29Phe) variant of BRCA2 (P51587)
L29F (p.Leu29Phe) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- rs1424422846
- ClinGen CA387754078
- ClinVar RCV003530303
- TOPMed rs1424422846
- Pathogenic
- Missense
- AlphaMissense 0.23
- MetaLR 0.02
- MetaSVM -1.09
- SIFT 0.00
- MutPred 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)