G19E (p.Gly19Glu) variant of CASK (O14936)
G19E (p.Gly19Glu) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Syndromic X-linked intellectual disability Najm type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes experimental measurements, published literature, and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- rs2072812741
- ClinGen CA413001800
- NCI-TCGA Cosmic COSV5936
- cosmic curated COSV59361
- Uncertain significance
- Syndromic X-linked intellectual disability Najm type
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.17
- EVE 0.23
- ClinVar: Uncertain significance (Syndromic X-linked intellectual disability Najm type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.0099
- Cited in: CASK Disorders. (PMID 24278995)