A17V (p.Ala17Val) variant of POR (NADPH--cytochrome P450 reductase)
A17V (p.Ala17Val) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs782214390
- gnomAD 7-75954045-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.02
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.00
- CADD 13.00
- PolyPhen-2 0.01
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Literature evidence available