H5H (p.His5His) variant of ADAMTS13 (Q76LX8)
H5H (p.His5His) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H5H (p.His5His) variant details
- p.His5His
- rs77985067
- gnomAD 9-133422458-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.165
- CADD 1.46
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available