M127T (p.Met127Thr) variant of CYP19A1 (Aromatase)
M127T (p.Met127Thr) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
M127T (p.Met127Thr) variant details
- p.Met127Thr
- rs1057518574
- ClinGen CA16042890
- ClinVar RCV000414127
- TOPMed rs1057518574
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.81
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available