G43V (p.Gly43Val) variant of CYP19A1 (Aromatase)
G43V (p.Gly43Val) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- ExAC rs754803299
- gnomAD rs754803299
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.13
- CADD 12.00
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available