G29G (p.Gly29Gly) variant of ADAMTS13 (Q76LX8)
G29G (p.Gly29Gly) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G29G (p.Gly29Gly) variant details
- p.Gly29Gly
- rs781994399
- gnomAD 9-133422530-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0855
- CADD 0.69
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available