R489Q (p.Arg489Gln) variant of CASK (O14936)
R489Q (p.Arg489Gln) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Intellectual disability, CASK-related, X-linked; FG syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
R489Q (p.Arg489Gln) variant details
- p.Arg489Gln
- rs1602292076
- ClinGen CA412997370
- ClinVar RCV000999405
- ClinVar RCV001253354
- Pathogenic/Likely pathogenic
- not provided; Intellectual disability, CASK-related, X-linked; FG syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.99
- MetaLR 0.41
- MetaSVM -0.14
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (not provided; Intellectual disability, CASK-related, X-linked; F)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)