H316Q (p.His316Gln) variant of MITF (O75030)
H316Q (p.His316Gln) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Waardenburg syndrome type 2A. The record also includes structural context.
H316Q (p.His316Gln) variant details
- p.His316Gln
- rs2471630395
- ClinGen CA353561661
- ClinVar RCV002301782
- Pathogenic
- Waardenburg syndrome type 2A
- Missense
- ClinVar: Pathogenic (Waardenburg syndrome type 2A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available