E13* (p.Glu13Ter) variant of CASK (O14936)
E13* (p.Glu13Ter) in CASK (O14936) 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 0.36 / 1. The record also includes experimental measurements and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- rs769965673
- ClinGen CA413001874
- ClinVar RCV001268856
- ExAC rs769965673
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.94
- MetaLR 0.24
- MetaSVM -0.56
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.16
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.154