S62del (p.Ser62del) variant of ADAMTS13 (Q76LX8)
S62del (p.Ser62del) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S62del (p.Ser62del) variant details
- gnomAD 9-133424329-CCTT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 4.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available