T182P (p.Thr182Pro) variant of CASK (O14936)
T182P (p.Thr182Pro) in CASK (O14936) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
T182P (p.Thr182Pro) variant details
- p.Thr182Pro
- rs1602431663
- ClinGen CA915950943
- ClinVar RCV001008315
- Ensembl rs1602431663
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available