MITF p.Tyr360Ser
c.1079A>C · VCV4686707
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Waardenburg syndrome type 2A
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- MITF
- Protein
- p.Tyr360Ser
- Coding
- c.1079A>C
- MANE Select
- NM_001354604
- Type
- single nucleotide variant
- Gene constraint
- LOEUF 0.482 · pLI 0.99 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.25 · 12 PDB
- Residue 360
- the bhlh domain; an α-helix
Similar variants
- MITF p.Tyr360= Likely benign ★★ same residue
- MITF p.Tyr360His Uncertain significance ★ ⚠ same residue
- MITF c.1031+1G>A Pathogenic ★★ same condition
- MITF c.1179+1G>A Pathogenic ★★ same condition
- MITF c.355-1062G>C Pathogenic/Likely pathogenic ★★ same condition
- MITF c.880+1G>A Likely pathogenic ★★ same condition
- MITF c.955+1G>A Likely pathogenic ★★ same condition
- MITF c.956-1G>A Pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mitf-p-tyr360ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown