P31S (p.Pro31Ser) variant of FKRP (Q9H9S5)
P31S (p.Pro31Ser) 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.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs2513984849
- ClinGen CA406494649
- ClinVar RCV002926950
- 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