ELANE p.Val186=
c.558C>A · rs878855317 · VCV242286
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.80 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.45 | gain · loss 0.22 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 0.22 | GERP -4.3, phastCons 0.94 |
| Overall | ||
| CADD | 17.19 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ELANE
- Protein
- p.Val186=
- Coding
- c.558C>A
- MANE Select
- NM_001972
- dbSNP
- rs878855317
- Type
- single nucleotide variant
- Location
- chr19:855755 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.42 · 38 PDB
- Residue 186
- a disulfide bond; a β-strand; the peptidase s1 domain
Similar variants
- ELANE p.Val186Ile Uncertain significance ★★ ⚠ same residue
- ELANE c.597+1G>A Pathogenic ★★ same type
- ELANE c.597+1G>C Pathogenic ★★ same type
- ELANE c.597+1G>T Pathogenic ★★ same type
- ELANE c.597+5G>A Pathogenic/Likely pathogenic ★★ same type
- ELANE p.Ala57Thr Pathogenic/Likely pathogenic ★★ same type
- ELANE p.Ala57Val Pathogenic/Likely pathogenic ★★ same type
- ELANE p.Ala61Val Pathogenic/Likely pathogenic ★★ ⚠ 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/elane-p-val186 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown