I1217T (p.Ile1217Thr) variant of ADAMTS13 (Q76LX8)
I1217T (p.Ile1217Thr) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I1217T (p.Ile1217Thr) variant details
- p.Ile1217Thr
- rs200847393
- ClinGen CA200944792
- ClinVar RCV001843981
- ClinVar RCV005040408
- Pathogenic/Likely pathogenic
- Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.53
- MetaLR 0.47
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic/Likely pathogenic (Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available