E4K (p.Glu4Lys) variant of CYP19A1 (Aromatase)
E4K (p.Glu4Lys) in CYP19A1 (Aromatase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- rs1485079207
- NCI-TCGA Cosmic COSV5305
- cosmic curated COSV53058
- TOPMed rs1485079207
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available