A2T (p.Ala2Thr) variant of CASK (O14936)
A2T (p.Ala2Thr) 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 experimental measurements and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs2520195945
- ClinVar RCV004588882
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.0021