G197R (p.Gly197Arg) variant of CASK (O14936)
G197R (p.Gly197Arg) 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 0.52 / 1. The record also includes published literature and structural context.
G197R (p.Gly197Arg) variant details
- p.Gly197Arg
- rs2067100386
- ClinGen CA412998286
- cosmic curated COSV59371
- ClinVar RCV002016863
- Uncertain significance
- not provided; Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (not provided; Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)