R489W (p.Arg489Trp) variant of CASK (O14936)
R489W (p.Arg489Trp) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Smith-Magenis Syndrome-like; not provided; Syndromic X-linked intellectual disab. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
R489W (p.Arg489Trp) variant details
- p.Arg489Trp
- rs1114167352
- ClinGen CA412997373
- NCI-TCGA Cosmic COSV5936
- cosmic curated COSV59364
- Pathogenic/Likely pathogenic
- Smith-Magenis Syndrome-like; not provided; Syndromic X-linked intellectual disab
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Smith-Magenis Syndrome-like; not provided; Syndromic X-linked in)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)