G21V (p.Gly21Val) variant of CASK (O14936)
G21V (p.Gly21Val) 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 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- rs2071299462
- ClinGen CA413001060
- ClinVar RCV003625588
- Uncertain significance
- Intellectual disability, CASK-related, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Intellectual disability, CASK-related, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.281
- Cited in: CASK Disorders. (PMID 24278995)