G35E (p.Gly35Glu) variant of CASK (O14936)
G35E (p.Gly35Glu) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G35E (p.Gly35Glu) variant details
- p.Gly35Glu
- rs1485547629
- ClinGen CA413000898
- ClinVar RCV001957049
- TOPMed rs1485547629
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.68
- MetaLR 0.33
- MetaSVM -0.39
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.19
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.134
- Cited in: CASK Disorders. (PMID 24278995)