W56* (p.Trp56Ter) variant of CYP11B1 (P15538)
W56* (p.Trp56Ter) in CYP11B1 (P15538) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
W56* (p.Trp56Ter) variant details
- p.Trp56Ter
- rs1383321200
- ClinGen CA372397212
- ClinVar RCV000672260
- TOPMed rs1383321200
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.50
- MetaLR 0.69
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available