A15V (p.Ala15Val) variant of POR (NADPH--cytochrome P450 reductase)
A15V (p.Ala15Val) 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 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; An. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs782214390
- ClinGen CA4303440
- ClinVar RCV002570994
- ClinVar RCV005398935
- Uncertain significance
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; An
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -1.00
- SIFT 0.15
- MutPred 0.17
- ClinVar: Uncertain significance (Antley-Bixler syndrome with genital anomalies and disordered ste)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)