E102G (p.Glu102Gly) variant of CASK (O14936)
E102G (p.Glu102Gly) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FG syndrome 4; Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E102G (p.Glu102Gly) variant details
- p.Glu102Gly
- rs1569429756
- ClinGen CA413003079
- cosmic curated COSV10058
- ClinVar RCV000697924
- Pathogenic/Likely pathogenic
- FG syndrome 4; Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.64
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (FG syndrome 4; Intellectual disability, CASK-related, X-linked)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)