R106Q (p.Arg106Gln) variant of CASK (O14936)
R106Q (p.Arg106Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
R106Q (p.Arg106Gln) variant details
- p.Arg106Gln
- rs2147736164
- ClinGen CA413003053
- cosmic curated COSV59366
- ClinVar RCV001907725
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 0.99
- MetaLR 0.24
- MetaSVM -0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)