A40A (p.Ala40Ala) variant of ADAMTS13 (Q76LX8)
A40A (p.Ala40Ala) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs1554784009
- gnomAD 9-133423115-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 2.99
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available