Q44Q (p.Gln44Gln) variant of ADAMTS13 (Q76LX8)
Q44Q (p.Gln44Gln) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q44Q (p.Gln44Gln) variant details
- p.Gln44Gln
- gnomAD 9-133423127-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 2.85
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available