V7A (p.Val7Ala) variant of CYP1A2 (Cytochrome P450 1A2)
V7A (p.Val7Ala) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- TOPMed rs1193278468
- gnomAD rs1193278468
- Missense
- Variant Prioritization Score for Impact Estimate 0.0811
- REVEL 0.07
- CADD 1.60
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available