S45P (p.Ser45Pro) variant of CYP19A1 (Aromatase)
S45P (p.Ser45Pro) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- cosmic curated COSV53062
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.43
- CADD 22.70
- PolyPhen-2 0.44
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available