M1I (p.Met1Ile) variant of BRCA2 (P51587)
M1I (p.Met1Ile) 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.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs80358650
- ClinGen CA019369
- ClinVar RCV000031452
- ClinVar RCV000496217
- Pathogenic
- Missense
- MetaLR 0.01
- MetaSVM -1.08
- SIFT 0.00
- MutPred 0.99
- 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)