G19R (p.Gly19Arg) variant of CASK (O14936)
G19R (p.Gly19Arg) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Intellectual disability, CASK-related, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs727503840
- ClinGen CA413001806
- ClinVar RCV003040906
- ClinVar RCV004765634
- Uncertain significance
- not provided; Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; 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 -0.0099
- Cited in: CASK Disorders. (PMID 24278995)