Q66P (p.Gln66Pro) variant of ADAMTS13 (Q76LX8)
Q66P (p.Gln66Pro) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q66P (p.Gln66Pro) variant details
- p.Gln66Pro
- rs782456900
- gnomAD 9-133424331-T-TTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 15.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available