D235Y (p.Asp235Tyr) variant of ADAMTS13 (Q76LX8)
D235Y (p.Asp235Tyr) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
D235Y (p.Asp235Tyr) variant details
- p.Asp235Tyr
- rs281875337
- TOPMed rs281875337
- gnomAD rs281875337
- ClinGen CA375384817
- Conflicting interpretations
- not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.94
- AlphaMissense 0.79
- MetaLR 0.89
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Upshaw-Schulman syndrome)
- EBI: Likely pathogenic (in TTP)
- UniProt: Likely pathogenic (in TTP)
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available