L318P (p.Leu318Pro) variant of MITF (O75030)

Name: MITF L318P (p.Leu318Pro) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-28
License: https://catvariant.com/terms-of-use

L318P (p.Leu318Pro) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Melanoma, cutaneous malignant, susceptibility to, 8; Tietz syndrom. The record also includes structural context.

L318P (p.Leu318Pro) variant details

p.Leu318Pro
rs1553704097
ClinGen CA353561671
ClinVar RCV000659862
ClinVar RCV002466557
Pathogenic/Likely pathogenic
not provided; Melanoma, cutaneous malignant, susceptibility to, 8; Tietz syndrom
Missense
ClinVar: Pathogenic/Likely pathogenic (not provided; Melanoma, cutaneous malignant, susceptibility to,)
EBI: Pathogenic
UniProt: Pathogenic
Structural context available