S18P (p.Ser18Pro) variant of CYP1A2 (Cytochrome P450 1A2)
S18P (p.Ser18Pro) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 15-74749790-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.37
- CADD 17.70
- PolyPhen-2 0.71
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available