E641K (p.Glu641Lys) variant of ADAMTS13 (Q76LX8)
E641K (p.Glu641Lys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E641K (p.Glu641Lys) variant details
- p.Glu641Lys
- rs782547718
- ExAC rs782547718
- gnomAD rs782547718
- ClinGen CA200932571
- Likely pathogenic
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.79
- MetaLR 0.66
- MetaSVM 0.50
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available