R398C (p.Arg398Cys) variant of ADAMTS13 (Q76LX8)
R398C (p.Arg398Cys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R398C (p.Arg398Cys) variant details
- p.Arg398Cys
- rs376606652
- ExAC rs376606652
- ClinGen CA200926963
- ClinVar RCV002274488
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.59
- MetaLR 0.41
- MetaSVM 0.04
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Likely pathogenic (in TTP)
- UniProt: Likely pathogenic (in TTP)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available