M21I (p.Met21Ile) variant of CYP19A1 (Aromatase)
M21I (p.Met21Ile) 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 0.16 / 1. The record also includes population frequency data and structural context.
M21I (p.Met21Ile) variant details
- p.Met21Ile
- rs1474563724
- NCI-TCGA Cosmic COSV5305
- cosmic curated COSV53059
- gnomAD rs1474563724
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.05
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.78
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available