T314A (p.Thr314Ala) variant of FKRP (Q9H9S5)
T314A (p.Thr314Ala) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The record also includes structural context.
T314A (p.Thr314Ala) variant details
- p.Thr314Ala
- rs2513994340
- ClinGen CA406496327
- ClinVar RCV003756068
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic (in MDDGC5)
- UniProt: Likely pathogenic (in MDDGC5)
- Structural context available