W140* (p.Trp140Ter) variant of ABCC6 (O95255)
W140* (p.Trp140Ter) in ABCC6 (O95255) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
W140* (p.Trp140Ter) variant details
- p.Trp140Ter
- TOPMed rs1242802005
- gnomAD rs1242802005
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.877
- CADD 37.00
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available