I27M (p.Ile27Met) variant of BRCA2 (P51587)
I27M (p.Ile27Met) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
I27M (p.Ile27Met) variant details
- p.Ile27Met
- rs1555280333
- ClinGen CA387754061
- ClinVar RCV000562416
- ClinVar RCV000637691
- Likely benign
- Missense
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -1.01
- CADD 23.60
- PolyPhen-2 0.68
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)