E129K (p.Glu129Lys) variant of CYP19A1 (Aromatase)
E129K (p.Glu129Lys) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E129K (p.Glu129Lys) variant details
- p.Glu129Lys
- gnomAD rs1239898028
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.45
- AlphaMissense 0.19
- MetaLR 0.54
- MetaSVM -0.02
- CADD 26.50
- PolyPhen-2 0.84
- Population evidence available
- Structural context available