D49G (p.Asp49Gly) variant of CYP2C9 (Cytochrome P450 2C9)
D49G (p.Asp49Gly) in CYP2C9 (Cytochrome P450 2C9) 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 and structural context.
D49G (p.Asp49Gly) variant details
- p.Asp49Gly
- ExAC rs564813580
- TOPMed rs564813580
- gnomAD rs564813580
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.13
- CADD 19.50
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available