R74Q (p.Arg74Gln) variant of ADAMTS13 (Q76LX8)
R74Q (p.Arg74Gln) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- gnomAD rs1554784584
- Uncertain significance
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.07
- MetaLR 0.36
- MetaSVM -0.70
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Uncertain significance (Upshaw-Schulman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available