Q35del (p.Gln35del) variant of ADAMTS13 (Q76LX8)
Q35del (p.Gln35del) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q35del (p.Gln35del) variant details
- gnomAD 9-133422542-CCAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 11.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available