P89A (p.Pro89Ala) variant of FKRP (Q9H9S5)
P89A (p.Pro89Ala) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy; Autosomal recessive limb-girdle mu. The record also includes structural context.
P89A (p.Pro89Ala) variant details
- p.Pro89Ala
- rs1293404628
- ClinGen CA406494993
- ClinVar RCV003593251
- ClinVar RCV004574085
- Pathogenic/Likely pathogenic
- Walker-Warburg congenital muscular dystrophy; Autosomal recessive limb-girdle mu
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Walker-Warburg congenital muscular dystrophy; Autosomal recessiv)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available