M1I (p.Met1Ile) variant of WDR45 (Q9Y484)
M1I (p.Met1Ile) in WDR45 (Q9Y484) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2520267360
- ClinGen CA412949584
- ClinVar RCV003327953
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available