Q42* (p.Gln42Ter) variant of CYP21A2 (Steroid 21-hydroxylase)
Q42* (p.Gln42Ter) 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 0.51 / 1. The record also includes population frequency data and structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- rs1775996165
- ClinGen CA363499105
- ClinVar RCV001956313
- gnomAD rs1775996165
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available