C10C (p.Cys10Cys) variant of ADAMTS13 (Q76LX8)
C10C (p.Cys10Cys) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
C10C (p.Cys10Cys) variant details
- p.Cys10Cys
- rs1008512385
- gnomAD 9-133422473-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 4.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available