E33G (p.Glu33Gly) variant of BRCA2 (P51587)
E33G (p.Glu33Gly) in BRCA2 (P51587) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- gnomAD 13-32319107-A-G
- Missense
- REVEL 0.17
- MetaLR 0.04
- MetaSVM -1.22
- CADD 27.10
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available