T196I (p.Thr196Ile) variant of ADAMTS13 (Q76LX8)
T196I (p.Thr196Ile) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T196I (p.Thr196Ile) variant details
- p.Thr196Ile
- rs121908470
- ClinGen CA117748
- ClinVar RCV000006157
- ClinVar RCV001507764
- Pathogenic
- Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.87
- MetaLR 0.74
- MetaSVM 0.62
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Thrombotic thrombocytopenic purpura; not provided; Upshaw-Schulm)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)
- Cited in: Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. (PMID 14512317)