M1V (p.Met1Val) variant of CASK (O14936)
M1V (p.Met1Val) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1556313516
- ClinGen CA413002027
- ClinVar RCV002417108
- ClinVar RCV003624490
- Pathogenic
- Inborn genetic diseases
- Missense
- MetaLR 0.41
- MetaSVM -0.16
- PolyPhen-2 0.80
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CASK PDZ domain domainome 1.0: score 0.0173
- Cited in: CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. (PMID 22709267)
- Cited in: Phenotypic and molecular insights into CASK-related disorders in males. (PMID 25886057)