G206S (p.Gly206Ser) variant of CASK (O14936)
G206S (p.Gly206Ser) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual disability; not provided; FG syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
G206S (p.Gly206Ser) variant details
- p.Gly206Ser
- rs2067099763
- ClinGen CA412998108
- NCI-TCGA Cosmic COSV5936
- cosmic curated COSV59364
- Conflicting interpretations
- Intellectual disability; not provided; FG syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability; not provided; FG syndrome 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)