C124F (p.Cys124Phe) variant of CYP19A1 (Aromatase)
C124F (p.Cys124Phe) in CYP19A1 (Aromatase) is a missense change. 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.
C124F (p.Cys124Phe) variant details
- p.Cys124Phe
- cosmic curated COSV10637
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.34
- CADD 18.30
- PolyPhen-2 0.25
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available