T39A (p.Thr39Ala) variant of POR (NADPH--cytochrome P450 reductase)
T39A (p.Thr39Ala) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T39A (p.Thr39Ala) variant details
- p.Thr39Ala
- rs1787574873
- ClinGen CA367738364
- ClinVar RCV001810607
- Ensembl rs1787574873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.10
- MetaLR 0.09
- MetaSVM -1.05
- SIFT 0.52
- MutPred 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available