A45A (p.Ala45Ala) variant of ADAMTS13 (Q76LX8)
A45A (p.Ala45Ala) 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.
A45A (p.Ala45Ala) variant details
- p.Ala45Ala
- gnomAD 9-133423130-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0811
- CADD 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available