W39* (p.Trp39Ter) variant of CYP19A1 (Aromatase)
W39* (p.Trp39Ter) in CYP19A1 (Aromatase) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W39* (p.Trp39Ter) variant details
- p.Trp39Ter
- rs1335348345
- NCI-TCGA Cosmic COSV5306
- cosmic curated COSV53063
- gnomAD rs1335348345
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact. (in dbSNP:rs2236722)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available