V17L (p.Val17Leu) variant of CYP19A1 (Aromatase)
V17L (p.Val17Leu) in CYP19A1 (Aromatase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- 1000Genomes rs200111039
- ESP rs200111039
- ExAC rs200111039
- TOPMed rs200111039
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.27
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.36
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available