G78S (p.Gly78Ser) variant of ADAMTS13 (Q76LX8)
G78S (p.Gly78Ser) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
G78S (p.Gly78Ser) variant details
- p.Gly78Ser
- 1000Genomes rs587712720
- ExAC rs587712720
- TOPMed rs587712720
- gnomAD rs587712720
- Conflicting interpretations
- Inborn genetic diseases; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0977
- REVEL 0.05
- MetaLR 0.25
- MetaSVM -0.86
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Upshaw-Schulman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available