S100I (p.Ser100Ile) variant of CYP4F2 (Cytochrome P450 4F2)
S100I (p.Ser100Ile) in CYP4F2 (Cytochrome P450 4F2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S100I (p.Ser100Ile) variant details
- p.Ser100Ile
- ExAC rs750569610
- TOPMed rs750569610
- gnomAD rs750569610
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.20
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available