D49N (p.Asp49Asn) variant of CYP2C8 (Cytochrome P450 2C8)
D49N (p.Asp49Asn) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- ExAC rs778308888
- gnomAD rs778308888
- Missense
- Variant Prioritization Score for Impact Estimate 0.062
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available