R102H (p.Arg102His) variant of ADAMTS13 (Q76LX8)
R102H (p.Arg102His) 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 0.66 / 1. The record also includes population frequency data and structural context.
R102H (p.Arg102His) variant details
- p.Arg102His
- rs782716712
- ExAC rs782716712
- TOPMed rs782716712
- gnomAD rs782716712
- Likely pathogenic
- not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.72
- MetaLR 0.65
- MetaSVM 0.15
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Upshaw-Schulman syndrome)
- EBI: Likely pathogenic (in TTP)
- UniProt: Likely pathogenic (in TTP)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available