R41S (p.Arg41Ser) variant of FKRP (Q9H9S5)
R41S (p.Arg41Ser) 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. The record also includes structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- rs2122609166
- ClinGen CA406494704
- ClinVar RCV001974430
- Ensembl rs2122609166
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available