S113G (p.Ser113Gly) variant of CYP19A1 (Aromatase)
S113G (p.Ser113Gly) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S113G (p.Ser113Gly) variant details
- p.Ser113Gly
- ExAC rs763223426
- gnomAD rs763223426
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.12
- CADD 16.60
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available