G63S (p.Gly63Ser) variant of CYP19A1 (Aromatase)
G63S (p.Gly63Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
G63S (p.Gly63Ser) variant details
- p.Gly63Ser
- rs750143398
- ClinGen CA7560140
- ClinVar RCV002634219
- ClinVar RCV005930654
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.04
- CADD 9.57
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available