ERMARD p.Ser540Gly
c.1617_1618inv · VCV1168850
Benign
Single submitter
Classification
Benign
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 0.33 | GERP -1.5, phastCons 0.016 |
| Regional constraint | o/e 1.03 | unconstrained · MANE · 30 kb · p 0.34 · regional, not allelic |
Variant & gene context
- Gene
- ERMARD
- Protein
- p.Ser540Gly
- Coding
- c.1617_1618inv
- MANE Select
- NM_018341
- Type
- Inversion
- Location
- chr6:169776551 (GRCh38)
- Gene constraint
- LOEUF 0.996 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.79
- Residue 540
- a UniProt-annotated variant site (in)
Similar variants
- ERMARD p.Ser540= Likely benign ★ same residue
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/ermard-p-ser540gly (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown