L7H (p.Leu7His) variant of CYP2B6 (Cytochrome P450 2B6)
L7H (p.Leu7His) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L7H (p.Leu7His) variant details
- p.Leu7His
- gnomAD 19-40991325-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.43
- MetaLR 0.34
- MetaSVM -0.71
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available