R498C (p.Arg498Cys) variant of ADAMTS13 (Q76LX8)
R498C (p.Arg498Cys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R498C (p.Arg498Cys) variant details
- p.Arg498Cys
- rs201457594
- ClinGen CA200930293
- ClinVar RCV001785886
- ClinVar RCV003728006
- Likely pathogenic
- not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.57
- MetaLR 0.55
- MetaSVM 0.20
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Upshaw-Schulman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available