F54V (p.Phe54Val) variant of POR (NADPH--cytochrome P450 reductase)
F54V (p.Phe54Val) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F54V (p.Phe54Val) variant details
- p.Phe54Val
- gnomAD 7-75954161-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available