G46A (p.Gly46Ala) variant of CYP2C9 (Cytochrome P450 2C9)
G46A (p.Gly46Ala) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G46A (p.Gly46Ala) variant details
- p.Gly46Ala
- gnomAD 10-94938819-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0993
- REVEL 0.14
- CADD 0.11
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available