M1L (p.Met1Leu) variant of FKRP (Q9H9S5)
M1L (p.Met1Leu) 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.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs587777223
- ClinGen CA406494470
- ClinVar RCV001384814
- Pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available