A75A (p.Ala75Ala) variant of ADAMTS13 (Q76LX8)
A75A (p.Ala75Ala) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A75A (p.Ala75Ala) variant details
- p.Ala75Ala
- rs143856697
- gnomAD 9-133424373-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.13
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available