I478V (p.Ile478Val) variant of FKRP (Q9H9S5)
I478V (p.Ile478Val) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The record also includes structural context.
I478V (p.Ile478Val) variant details
- p.Ile478Val
- rs2514000287
- ClinGen CA406497353
- ClinVar RCV002636169
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available