M122E (p.Met122Glu) variant of CASK (O14936)
M122E (p.Met122Glu) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FG syndrome 4. The record also includes published literature and structural context.
M122E (p.Met122Glu) variant details
- p.Met122Glu
- rs2519495064
- ClinVar RCV004594845
- Uncertain significance
- FG syndrome 4
- Missense
- ClinVar: Uncertain significance (FG syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CASK Disorders. (PMID 24278995)