V5A (p.Val5Ala) variant of CYP2C9 (Cytochrome P450 2C9)
V5A (p.Val5Ala) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- 1000Genomes rs138957855
- ESP rs138957855
- ExAC rs138957855
- TOPMed rs138957855
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.18
- CADD 8.82
- PolyPhen-2 0.14
- SIFT 0.09
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available