M1K (p.Met1Lys) variant of BRCA2 (P51587)
M1K (p.Met1Lys) 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.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs80358547
- ClinGen CA387752876
- ClinVar RCV000496424
- ClinVar RCV001268575
- Pathogenic
- Missense
- MetaLR 0.01
- MetaSVM -1.06
- SIFT 0.00
- MutPred 0.99
- 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)