Q72* (p.Gln72Ter) variant of ADAMTS13 (Q76LX8)
Q72* (p.Gln72Ter) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q72* (p.Gln72Ter) variant details
- p.Gln72Ter
- gnomAD rs1554784580
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available