R28L (p.Arg28Leu) variant of CASK (O14936)
R28L (p.Arg28Leu) in CASK (O14936) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FGS4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes experimental measurements, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- rs137852816
- ClinGen CA121531
- ClinVar RCV000012288
- UniProt VAR 058719
- Pathogenic
- in FGS4
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.97
- MetaLR 0.10
- MetaSVM -0.66
- PolyPhen-2 0.99
- SIFT 0.13
- EVE 0.40
- EBI: Pathogenic (in FGS4)
- UniProt: Pathogenic (in FGS4)
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.779
- Cited in: A missense mutation in CASK causes FG syndrome in an Italian family. (PMID 19200522)
- Cited in: CASK Disorders. (PMID 24278995)