G197* (p.Gly197Ter) variant of CASK (O14936)
G197* (p.Gly197Ter) 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 0.52 / 1. The record also includes published literature and structural context.
G197* (p.Gly197Ter) variant details
- p.Gly197Ter
- rs2067100386
- ClinGen CA412998280
- ClinVar RCV003147863
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)