L140V (p.Leu140Val) variant of CYP19A1 (Aromatase)
L140V (p.Leu140Val) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L140V (p.Leu140Val) variant details
- p.Leu140Val
- ExAC rs780888050
- gnomAD rs780888050
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.22
- CADD 18.00
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available