E42K (p.Glu42Lys) variant of CYP19A1 (Aromatase)
E42K (p.Glu42Lys) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- gnomAD rs1308017127
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.17
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available