p.Gln72 Arg73del variant of ADAMTS13 (Q76LX8)
p.Gln72 Arg73del in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln72 Arg73del variant details
- rs781853881
- gnomAD 9-133424343-CCAGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 7.93
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Literature evidence available