S102T (p.Ser102Thr) variant of CYP19A1 (Aromatase)
S102T (p.Ser102Thr) in CYP19A1 (Aromatase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S102T (p.Ser102Thr) variant details
- p.Ser102Thr
- rs755257022
- NCI-TCGA Cosmic COSV5306
- cosmic curated COSV53060
- ExAC rs755257022
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.17
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available