G2E (p.Gly2Glu) variant of POR (NADPH--cytochrome P450 reductase)
G2E (p.Gly2Glu) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- rs1554555567
- gnomAD 7-75968086-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 19.70
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available