W49* (p.Trp49Ter) variant of CYP11B1 (P15538)
W49* (p.Trp49Ter) 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 0.74 / 1. The record also includes population frequency data and structural context.
W49* (p.Trp49Ter) variant details
- p.Trp49Ter
- rs2488682060
- ClinGen CA372397256
- ClinVar RCV002908920
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available