G29* (p.Gly29Ter) variant of ADAMTS13 (Q76LX8)
G29* (p.Gly29Ter) in ADAMTS13 (Q76LX8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
G29* (p.Gly29Ter) variant details
- p.Gly29Ter
- rs1840019690
- ClinGen CA375706780
- ClinVar RCV002283959
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.21
- MetaLR 0.65
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.63
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available