P38L (p.Pro38Leu) variant of CYP2B6 (Cytochrome P450 2B6)
P38L (p.Pro38Leu) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- gnomAD 19-40991418-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.27
- MetaLR 0.04
- MetaSVM -1.16
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available