A8G (p.Ala8Gly) variant of ADAMTS13 (Q76LX8)
A8G (p.Ala8Gly) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- gnomAD 9-133422462-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.68
- Population evidence available
- Structural context available
- Literature evidence available