P8L (p.Pro8Leu) variant of CYP19A1 (Aromatase)
P8L (p.Pro8Leu) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- cosmic curated COSV53063
- ExAC rs144803182
- TOPMed rs144803182
- gnomAD rs144803182
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.28
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available