Q19* (p.Gln19Ter) variant of CYP11B1 (P15538)
Q19* (p.Gln19Ter) in CYP11B1 (P15538) 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 0.31 / 1. The record also includes population frequency data and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- rs763195324
- ClinGen CA372397430
- ClinVar RCV000667072
- ClinVar RCV001040067
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available