Q35Q (p.Gln35Gln) variant of ADAMTS13 (Q76LX8)
Q35Q (p.Gln35Gln) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q35Q (p.Gln35Gln) variant details
- p.Gln35Gln
- gnomAD 9-133422548-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available