F163L (p.Phe163Leu) variant of CASK (O14936)
F163L (p.Phe163Leu) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
F163L (p.Phe163Leu) variant details
- p.Phe163Leu
- rs2147495667
- ClinGen CA412998991
- ClinVar RCV001526625
- Ensembl rs2147495667
- Likely pathogenic
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Likely pathogenic (Intellectual disability)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)