G4V (p.Gly4Val) variant of BRCA2 (P51587)
G4V (p.Gly4Val) 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.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- rs587782137
- ClinGen CA387752915
- ClinVar RCV001010276
- ExAC rs587782137
- Likely benign
- Missense
- REVEL 0.07
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)