R7P (p.Arg7Pro) variant of ADAMTS13 (Q76LX8)
R7P (p.Arg7Pro) 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.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- gnomAD 9-133422457-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available