P353L (p.Pro353Leu) variant of ADAMTS13 (Q76LX8)
P353L (p.Pro353Leu) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P353L (p.Pro353Leu) variant details
- p.Pro353Leu
- rs281875338
- TOPMed rs281875338
- gnomAD rs281875338
- ClinGen CA219977
- Pathogenic/Likely pathogenic
- not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.60
- MetaLR 0.68
- MetaSVM 0.56
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.27
- ClinVar: Pathogenic/Likely pathogenic (not provided; Upshaw-Schulman syndrome)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. (PMID 12393505)
- Cited in: Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. (PMID 12753286)