D47G (p.Asp47Gly) variant of CYP2B6 (Cytochrome P450 2B6)
D47G (p.Asp47Gly) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- gnomAD 19-40991445-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.90
- CADD 22.50
- PolyPhen-2 0.84
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available