R7R (p.Arg7Arg) variant of ADAMTS13 (Q76LX8)
R7R (p.Arg7Arg) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- rs34024143
- gnomAD 9-133422462-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.083
- CADD 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)