G4R (p.Gly4Arg) variant of BRCA2 (P51587)
G4R (p.Gly4Arg) 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 population frequency data.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- Ensembl rs397507571
- Pathogenic
- Missense
- REVEL 0.08
- AlphaMissense 0.21
- MetaLR 0.00
- MetaSVM -0.92
- CADD 32.00
- PolyPhen-2 0.96
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)