W111* (p.Trp111Ter) variant of ABCC6 (O95255)
W111* (p.Trp111Ter) in ABCC6 (O95255) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
W111* (p.Trp111Ter) variant details
- p.Trp111Ter
- rs1002088882
- ClinGen CA278671540
- ClinVar RCV000499345
- TOPMed rs1002088882
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.895
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)