p.Arg73 Arg74insGlnSer variant of ADAMTS13 (Q76LX8)

Name: ADAMTS13 p.Arg73 Arg74insGlnSer variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

p.Arg73 Arg74insGlnSer in ADAMTS13 (Q76LX8) is a missense 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.

p.Arg73 Arg74insGlnSer variant details

rs1484827075
gnomAD 9-133424367-G-GCA
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.121
CADD 5.64
Most common in the REMAINING population (allele frequency 5e-05)
Structural context available
Literature evidence available