E53D (p.Glu53Asp) variant of POR (NADPH--cytochrome P450 reductase)
E53D (p.Glu53Asp) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E53D (p.Glu53Asp) variant details
- p.Glu53Asp
- cosmic curated COSV10823
- gnomAD rs781868923
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.02
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -0.92
- CADD 5.64
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available