W28* (p.Trp28Ter) variant of ADAMTS13 (Q76LX8)
W28* (p.Trp28Ter) in ADAMTS13 (Q76LX8) 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 0.51 / 1. The record also includes population frequency data and structural context.
W28* (p.Trp28Ter) variant details
- p.Trp28Ter
- rs2130769073
- Ensembl rs2130769073
- ClinGen CA375706775
- ClinVar RCV002223117
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available