S18A (p.Ser18Ala) variant of CYP1A2 (Cytochrome P450 1A2)
S18A (p.Ser18Ala) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S18A (p.Ser18Ala) variant details
- p.Ser18Ala
- gnomAD 15-74749790-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.03
- CADD 7.78
- PolyPhen-2 0.01
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available