T293A (p.Thr293Ala) variant of FKRP (Q9H9S5)
T293A (p.Thr293Ala) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The record also includes structural context.
T293A (p.Thr293Ala) variant details
- p.Thr293Ala
- rs2122625896
- ClinGen CA406496199
- ClinVar RCV002006464
- Ensembl rs2122625896
- Pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Structural context available