I29F (p.Ile29Phe) variant of POR (NADPH--cytochrome P450 reductase)
I29F (p.Ile29Phe) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I29F (p.Ile29Phe) variant details
- p.Ile29Phe
- rs1554553312
- gnomAD 7-75953996-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.03
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available