M1V (p.Met1Val) variant of BRCA2 (P51587)
M1V (p.Met1Val) 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs863224464
- ClinGen CA335967
- ClinVar RCV000195819
- Pathogenic
- Missense
- MetaLR 0.01
- MetaSVM -1.04
- 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)