Q28R (p.Gln28Arg) variant of FKRP (Q9H9S5)
Q28R (p.Gln28Arg) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy; not provided. The record also includes structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- rs756205019
- ClinGen CA406494631
- ClinVar RCV001241408
- ClinVar RCV001828976
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy; not provided
- Missense
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available