L31F (p.Leu31Phe) variant of CYP19A1 (Aromatase)
L31F (p.Leu31Phe) 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 0.20 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- NCI-TCGA Cosmic COSV5305
- cosmic curated COSV53059
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.10
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available