V79L (p.Val79Leu) variant of WDR45 (Q9Y484)
V79L (p.Val79Leu) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental disorder. The record also includes structural context.
V79L (p.Val79Leu) variant details
- p.Val79Leu
- rs2520266090
- ClinGen CA412949002
- ClinVar RCV003127353
- Pathogenic
- Developmental disorder
- Missense
- ClinVar: Pathogenic (Developmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available