Q44H (p.Gln44His) variant of CYP2C9 (Cytochrome P450 2C9)
Q44H (p.Gln44His) in CYP2C9 (Cytochrome P450 2C9) 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 0.37 / 1. The record also includes population frequency data and structural context.
Q44H (p.Gln44His) variant details
- p.Gln44His
- TOPMed rs1042669734
- gnomAD rs1042669734
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.22
- CADD 20.30
- PolyPhen-2 0.93
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available