C1084Y (p.Cys1084Tyr) variant of ADAMTS13 (Q76LX8)
C1084Y (p.Cys1084Tyr) 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 0.90 / 1. The record also includes population frequency data and structural context.
C1084Y (p.Cys1084Tyr) variant details
- p.Cys1084Tyr
- rs1554795391
- ClinGen CA375411222
- ClinVar RCV002274487
- gnomAD rs1554795391
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available