R1060W (p.Arg1060Trp) variant of ADAMTS13 (Q76LX8)
R1060W (p.Arg1060Trp) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombophilia with a likely monogenic cause; Thrombotic thrombocytopenic purpura. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R1060W (p.Arg1060Trp) variant details
- p.Arg1060Trp
- rs142572218
- 1000Genomes rs142572218
- ESP rs142572218
- ExAC rs142572218
- Pathogenic/Likely pathogenic
- Thrombophilia with a likely monogenic cause; Thrombotic thrombocytopenic purpura
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.42
- MetaLR 0.46
- MetaSVM -0.02
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia with a likely monogenic cause; Thrombotic thromboc)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the 1KG:GBR population (allele frequency 0.011)
- Structural context available
- Cited in: Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. (PMID 16796708)
- Cited in: A common origin of the 4143insA ADAMTS13 mutation. (PMID 16807643)