I34V (p.Ile34Val) variant of POR (NADPH--cytochrome P450 reductase)
I34V (p.Ile34Val) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
I34V (p.Ile34Val) variant details
- p.Ile34Val
- gnomAD 7-75954086-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0719
- REVEL 0.07
- CADD 1.29
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available
- Literature evidence available