S12P (p.Ser12Pro) variant of CYP2C9 (Cytochrome P450 2C9)
S12P (p.Ser12Pro) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- gnomAD 10-94938716-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.31
- MetaLR 0.27
- MetaSVM -0.81
- CADD 16.90
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available