H111Y (p.His111Tyr) variant of CYP19A1 (Aromatase)
H111Y (p.His111Tyr) 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 0.36 / 1. The record also includes population frequency data and structural context.
H111Y (p.His111Tyr) variant details
- p.His111Tyr
- NCI-TCGA Cosmic COSV5306
- NCI-TCGA Cosmic COSV9954
- cosmic curated COSV99547
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.33
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available