MYO7A p.Ala2039Met
c.6115_6116delinsAT · VCV4913311
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
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 12 | GERP 1.8, 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.Ala2039Met
- Coding
- c.6115_6116delinsAT
- MANE Select
- NM_000260
- Type
- Indel
- Location
- chr11:77211215 (GRCh38)
- Gene constraint
- LOEUF 0.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73 · 1 PDB
- Residue 2039
- the ferm 2 domain; an α-helix
Similar variants
- MYO7A p.Ala2039Val Uncertain significance ★★ ⚠ same residue
- MYO7A p.Ala2039= Likely benign ★★ same residue
- MYO7A p.Ala2039Ser Uncertain significance ★ ⚠ same residue
- MYO7A c.1798-7_1800delinsATCGGCTGCT Pathogenic/Likely pathogenic ★★ same type
- MYO7A c.3503+1_3503+12delinsC Likely pathogenic ★★ same type
- MYO7A p.Arg336fs Pathogenic/Likely pathogenic ★★ same type
- MYO7A p.Glu1515_Met1517delinsAla Pathogenic/Likely pathogenic ★★ same type
- MYO7A p.Tyr1416Gln 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-ala2039met (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown