R349C (p.Arg349Cys) variant of ADAMTS13 (Q76LX8)
R349C (p.Arg349Cys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R349C (p.Arg349Cys) variant details
- p.Arg349Cys
- rs281875288
- TOPMed rs281875288
- gnomAD rs281875288
- ClinGen CA219974
- Pathogenic/Likely pathogenic
- not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.61
- MetaLR 0.43
- MetaSVM -0.19
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15… (PMID 19055667)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)