Q44K (p.Gln44Lys) variant of CYP2C8 (Cytochrome P450 2C8)
Q44K (p.Gln44Lys) in CYP2C8 (Cytochrome P450 2C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- ExAC rs772202170
- TOPMed rs772202170
- gnomAD rs772202170
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.34
- CADD 18.90
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available