G4A (p.Gly4Ala) variant of BRCA2 (P51587)
G4A (p.Gly4Ala) 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.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- rs587782137
- ClinGen CA011150
- ClinVar RCV000167014
- ClinVar RCV000637700
- Likely benign
- Missense
- REVEL 0.13
- CADD 23.70
- PolyPhen-2 0.83
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)