G50V (p.Gly50Val) variant of CYP2B6 (Cytochrome P450 2B6)
G50V (p.Gly50Val) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- gnomAD 19-40991454-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.29
- MetaLR 0.34
- MetaSVM -0.78
- CADD 21.40
- PolyPhen-2 1.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available