A23S (p.Ala23Ser) variant of CYP19A1 (Aromatase)
A23S (p.Ala23Ser) 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 0.07 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- rs201610075
- NCI-TCGA Cosmic COSV9954
- cosmic curated COSV99547
- ExAC rs201610075
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0693
- REVEL 0.05
- CADD 4.84
- PolyPhen-2 0.04
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available