ACD p.Arg19Ser
c.55C>A · rs777972235 · VCV1748548
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000424%, nfe)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.015 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1 | GERP -2.1 |
| Overall | ||
| CADD | 1.67 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000424%
European (non-Finnish) · 5/1,179,480 alleles
Filtering AF
0.000124%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9e-05%
Overall
0.000343%
5/1,457,940 alleles · very rare
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.Arg19Ser
- Coding
- c.55C>A
- MANE Select
- NM_001082486
- dbSNP
- rs777972235
- Type
- single nucleotide variant
- Location
- chr16:67660424 (GRCh38)
- Gene constraint
- LOEUF 0.921 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.09 · 28 PDB
- Residue 19
- a β-strand
Similar variants
- ACD p.Gly19= Likely benign ★ 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
- ACD c.-36C>G Uncertain significance ★★ same condition
- ACD c.-9G>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-arg19ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown