G164R (p.Gly164Arg) variant of CASK (O14936)
G164R (p.Gly164Arg) 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 0.78 / 1. The record also includes published literature and structural context.
G164R (p.Gly164Arg) variant details
- p.Gly164Arg
- rs2067197219
- ClinGen CA412998983
- ClinVar RCV001260653
- Ensembl rs2067197219
- Likely pathogenic
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- 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)