E309K (p.Glu309Lys) variant of MITF (O75030)
E309K (p.Glu309Lys) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tietz syndrome; Waardenburg syndrome type 2A. The record also includes structural context.
E309K (p.Glu309Lys) variant details
- p.Glu309Lys
- rs1553704086
- ClinGen CA353561600
- ClinVar RCV000656418
- ClinVar RCV004788081
- Likely pathogenic
- Tietz syndrome; Waardenburg syndrome type 2A
- Missense
- ClinVar: Likely pathogenic (Tietz syndrome; Waardenburg syndrome type 2A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available