C14S (p.Cys14Ser) variant of ADAMTS13 (Q76LX8)
C14S (p.Cys14Ser) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
C14S (p.Cys14Ser) variant details
- p.Cys14Ser
- ExAC rs782679501
- TOPMed rs782679501
- gnomAD rs782679501
- Uncertain significance
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.13
- MetaLR 0.26
- MetaSVM -0.82
- CADD 0.27
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Upshaw-Schulman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available