G78C (p.Gly78Cys) variant of ADAMTS13 (Q76LX8)
G78C (p.Gly78Cys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G78C (p.Gly78Cys) variant details
- p.Gly78Cys
- 1000Genomes rs587712720
- ExAC rs587712720
- TOPMed rs587712720
- gnomAD rs587712720
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.29
- MetaLR 0.46
- MetaSVM -0.41
- CADD 9.43
- PolyPhen-2 0.67
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available