W23* (p.Trp23Ter) variant of CYP21A2 (Steroid 21-hydroxylase)
W23* (p.Trp23Ter) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
W23* (p.Trp23Ter) variant details
- p.Trp23Ter
- cosmic curated COSV10530
- 1000Genomes rs72552744
- ExAC rs72552744
- TOPMed rs72552744
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 34.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available