M1L (p.Met1Leu) variant of CASK (O14936)
M1L (p.Met1Leu) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes variant effect predictions, experimental measurements, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1556313516
- ClinGen CA413002025
- ClinVar RCV000579113
- Pathogenic
- not provided
- Missense
- MetaLR 0.41
- MetaSVM -0.16
- PolyPhen-2 0.80
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CASK PDZ domain domainome 1.0: score 0.0173