G170A (p.Gly170Ala) variant of CASK (O14936)
G170A (p.Gly170Ala) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
G170A (p.Gly170Ala) variant details
- p.Gly170Ala
- rs2519234514
- ClinGen CA412998941
- ClinVar RCV003438127
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available