E92K (p.Glu92Lys) variant of CASK (O14936)
E92K (p.Glu92Lys) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E92K (p.Glu92Lys) variant details
- p.Glu92Lys
- rs1310982151
- ClinGen CA413002516
- NCI-TCGA Cosmic COSV5936
- cosmic curated COSV59363
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.65
- CADD 26.60
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)