W6* (p.Trp6Ter) variant of ACAN (Aggrecan core protein)
W6* (p.Trp6Ter) in ACAN (Aggrecan core protein) 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 0.24 / 1. The record also includes structural context.
W6* (p.Trp6Ter) variant details
- p.Trp6Ter
- rs1447022229
- ClinGen CA393713678
- ClinVar RCV003325794
- TOPMed rs1447022229
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.244
- AlphaMissense 0.32
- MetaLR 0.00
- MetaSVM -0.78
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.13
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available