K37Q (p.Lys37Gln) variant of CYP1A2 (Cytochrome P450 1A2)
K37Q (p.Lys37Gln) in CYP1A2 (Cytochrome P450 1A2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K37Q (p.Lys37Gln) variant details
- p.Lys37Gln
- gnomAD 15-74749842-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 23.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available