Q44* (p.Gln44Ter) variant of ADAMTS13 (Q76LX8)
Q44* (p.Gln44Ter) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- gnomAD rs1554784015
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 27.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available