W56C (p.Trp56Cys) variant of CYP11B1 (P15538)
W56C (p.Trp56Cys) in CYP11B1 (P15538) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
W56C (p.Trp56Cys) variant details
- p.Trp56Cys
- rs1383321200
- NCI-TCGA Cosmic COSV9945
- cosmic curated COSV99455
- TOPMed rs1383321200
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.46
- AlphaMissense 0.50
- MetaLR 0.69
- MetaSVM 0.25
- CADD 24.90
- PolyPhen-2 1.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available