S100Y (p.Ser100Tyr) variant of CYP19A1 (Aromatase)
S100Y (p.Ser100Tyr) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S100Y (p.Ser100Tyr) variant details
- p.Ser100Tyr
- ESP rs368588028
- TOPMed rs368588028
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.60
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available