N463K (p.Asn463Lys) variant of FKRP (Q9H9S5)
N463K (p.Asn463Lys) 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.
N463K (p.Asn463Lys) variant details
- p.Asn463Lys
- rs765591278
- ClinGen CA406497264
- ClinVar RCV002725323
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic (in MDDGB5)
- UniProt: Likely pathogenic (in MDDGB5)
- Structural context available