G29D (p.Gly29Asp) variant of ADAMTS13 (Q76LX8)
G29D (p.Gly29Asp) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- gnomAD 9-133422525-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 23.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available