W22* (p.Trp22Ter) variant of CYP21A2 (Steroid 21-hydroxylase)
W22* (p.Trp22Ter) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
W22* (p.Trp22Ter) variant details
- p.Trp22Ter
- ExAC rs756302021
- gnomAD rs756302021
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 25.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available