C14W (p.Cys14Trp) variant of ADAMTS13 (Q76LX8)
C14W (p.Cys14Trp) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C14W (p.Cys14Trp) variant details
- p.Cys14Trp
- rs781957622
- gnomAD 9-133422482-CTGTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 17.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available