L44P (p.Leu44Pro) variant of CYP2B6 (Cytochrome P450 2B6)
L44P (p.Leu44Pro) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- gnomAD 19-40991436-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.60
- MetaLR 0.40
- MetaSVM -0.29
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available