R71R (p.Arg71Arg) variant of ADAMTS13 (Q76LX8)
R71R (p.Arg71Arg) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R71R (p.Arg71Arg) variant details
- p.Arg71Arg
- rs782220406
- gnomAD 9-133424361-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 6.67
- Population evidence available
- Structural context available
- Literature evidence available