G17* (p.Gly17Ter) variant of ADAMTS13 (Q76LX8)
G17* (p.Gly17Ter) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G17* (p.Gly17Ter) variant details
- p.Gly17Ter
- gnomAD 9-133422492-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available