R61W (p.Arg61Trp) variant of CASK (O14936)
R61W (p.Arg61Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- rs2147833182
- ClinGen CA413002739
- cosmic curated COSV10810
- ClinVar RCV001902667
- Uncertain significance
- Intellectual disability, CASK-related, X-linked; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.55
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.421
- Cited in: CASK Disorders. (PMID 24278995)