p.Leu30 Pro31del variant of CYP2B6 (Cytochrome P450 2B6)
p.Leu30 Pro31del in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu30 Pro31del variant details
- rs1968918108
- gnomAD 19-40991392-CCTCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 11.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available