MYO7A p.Leu16Ser
c.47_48inv · VCV1139067
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP -0.84, phastCons 1 |
| Regional constraint | o/e 0.95 | unconstrained · MANE · 84 kb · p 0.0065 · regional, not allelic |
Variant & gene context
- Gene
- MYO7A
- Protein
- p.Leu16Ser
- Coding
- c.47_48inv
- MANE Select
- NM_000260
- Type
- Inversion
- Location
- chr11:77142737 (GRCh38)
- Gene constraint
- LOEUF 0.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73 · 1 PDB
- Residue 16
- a UniProt-annotated variant site (in)
Similar variants
- MYO7A p.Leu16Ter Pathogenic/Likely pathogenic ★★ same residue
- MYO7A p.Leu16fs Pathogenic ★ same residue
- MYO7A p.Leu16= Likely benign ★ same residue
- MYO7A c.5743-12_5743-11inv Likely benign ★★ same type
- MYO7A p.Gly261Asp Uncertain significance ★ same type
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/myo7a-p-leu16ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown