ACD p.Trp69Arg
c.205T>C · rs2543612206 · VCV2480798
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.036 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -2.3 |
| Overall | ||
| CADD | 3.676 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/60,004 alleles
Overall
0.000124%
2/1,612,054 alleles · very rare
exomes 2/1,459,812 · genomes 0/152,242 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 60,004 |
| European (non-Finnish) | 8.48e-05% | 1,179,714 |
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
- ACD
- Protein
- p.Trp69Arg
- Coding
- c.205T>C
- MANE Select
- NM_001082486
- dbSNP
- rs2543612206
- Type
- single nucleotide variant
- Location
- chr16:67660274 (GRCh38)
- Gene constraint
- LOEUF 0.921 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.09 · 28 PDB
- Residue 69
- a β-strand
Similar variants
- ACD p.Cys69= Likely benign ★★ same residue
- ACD p.Cys69Trp Uncertain significance ★ ⚠ same residue
- ACD p.Cys69Ser Uncertain significance ★★ ⚠ same residue
- ACD c.-20C>T Uncertain significance ★★ same condition
- ACD c.-26T>G Uncertain significance ★★ same condition
- ACD c.-29C>A Uncertain significance ★★ same condition
- ACD c.-30C>T Uncertain significance ★★ same condition
- ACD c.-35C>T Uncertain significance ★★ same condition
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/acd-p-trp69arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown