K59Q (p.Lys59Gln) variant of CYP1A2 (Cytochrome P450 1A2)
K59Q (p.Lys59Gln) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K59Q (p.Lys59Gln) variant details
- p.Lys59Gln
- gnomAD 15-74749913-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.75
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available