L244P (p.Leu244Pro) variant of MITF (O75030)
L244P (p.Leu244Pro) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 2A. The record also includes structural context.
L244P (p.Leu244Pro) variant details
- p.Leu244Pro
- rs1553702406
- ClinGen CA658822357
- ClinVar RCV000659861
- Ensembl rs1553702406
- Likely pathogenic
- Waardenburg syndrome type 2A
- Missense
- ClinVar: Likely pathogenic (Waardenburg syndrome type 2A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available