ERMARD p.Val169=
c.507G>A · VCV3676492
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.81 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.75 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 4.6, phastCons 1 |
| Overall | ||
| CADD | 20.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,878 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000248%
4/1,613,528 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,878 |
| European (non-Finnish) | 0.000254% | 393,275 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ERMARD
- Protein
- p.Val169=
- Coding
- c.507G>A
- MANE Select
- NM_018341
- Type
- single nucleotide variant
- Location
- chr6:169756808 (GRCh38)
- Gene constraint
- LOEUF 0.996 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.79
Similar variants
- ERMARD p.Ala474Val Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg367His Uncertain significance ★★ same type
- ERMARD p.Arg400Ser Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg537Gln Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg544Cys Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg569Cys Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg571Gln Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg571Trp 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/ermard-p-val169 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown