W20* (p.Trp20Ter) variant of CYP21A2 (Steroid 21-hydroxylase)
W20* (p.Trp20Ter) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
W20* (p.Trp20Ter) variant details
- p.Trp20Ter
- rs746097144
- ExAC rs746097144
- TOPMed rs746097144
- gnomAD rs746097144
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available