G126S (p.Gly126Ser) variant of CYP19A1 (Aromatase)
G126S (p.Gly126Ser) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G126S (p.Gly126Ser) variant details
- p.Gly126Ser
- rs745845217
- cosmic curated COSV53059
- ClinVar RCV004588972
- ExAC rs745845217
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.72
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available