R74R (p.Arg74Arg) variant of ADAMTS13 (Q76LX8)
R74R (p.Arg74Arg) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R74R (p.Arg74Arg) variant details
- p.Arg74Arg
- gnomAD 9-133424370-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 8.51
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available