L43P (p.Leu43Pro) variant of POR (NADPH--cytochrome P450 reductase)
L43P (p.Leu43Pro) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 7-75954129-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.12
- CADD 24.70
- PolyPhen-2 0.19
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available