H2H (p.His2His) variant of ADAMTS13 (Q76LX8)
H2H (p.His2His) 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.
H2H (p.His2His) variant details
- p.His2His
- rs782193624
- gnomAD 9-133422449-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0839
- CADD 0.46
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available
- Literature evidence available