P36H (p.Pro36His) variant of WDR45 (Q9Y484)
P36H (p.Pro36His) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Optic atrophy 2. The record also includes structural context.
P36H (p.Pro36His) variant details
- p.Pro36His
- rs2520266803
- ClinGen CA412949338
- ClinVar RCV003147748
- Likely pathogenic
- Optic atrophy 2
- Missense
- ClinVar: Likely pathogenic (Optic atrophy 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available