E53V (p.Glu53Val) variant of POR (NADPH--cytochrome P450 reductase)
E53V (p.Glu53Val) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E53V (p.Glu53Val) variant details
- p.Glu53Val
- rs376145249
- gnomAD 7-75954150-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.05
- AlphaMissense 0.11
- MetaLR 0.32
- MetaSVM -0.49
- CADD 24.40
- PolyPhen-2 0.02
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available