S32L (p.Ser32Leu) variant of POR (NADPH--cytochrome P450 reductase)
S32L (p.Ser32Leu) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- rs374350596
- cosmic curated COSV67517
- 1000Genomes rs374350596
- ESP rs374350596
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.22
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available