DCAF8 p.Arg204=
c.612C>T · rs144644529 · VCV2639498
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.387%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.76 | GERP -4.3 |
| Overall | ||
| CADD | 10.98 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.387%
European (non-Finnish) · 4,569/1,180,044 alleles
Filtering AF
0.378%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.374%
Overall
0.303%
4,895/1,614,236 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.387% | 258 |
| Remaining individualsnot grpmax-eligible | 0.142% | 702 |
| South Asian | 0.134% | 747 |
| Middle Eastern | 0.099% | 1,010 |
| African / African-American | 0.0759% | 1,317 |
| Finnishnot grpmax-eligible | 0.05% | 2,001 |
| Admixed American | 0.0283% | 3,531 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00675% | 14,804 |
| East Asian | 0.00223% | 44,888 |
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
- DCAF8
- Protein
- p.Arg204=
- Coding
- c.612C>T
- MANE Select
- NM_015726
- dbSNP
- rs144644529
- Type
- single nucleotide variant
- Location
- chr1:160239808 (GRCh38)
- Gene constraint
- LOEUF 0.466 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 74.60 · 2 PDB
- Residue 204
- a modified residue (omega-n-methylarginine; by prmt1)
Similar variants
- DCAF8 p.Arg117Cys Uncertain significance ★★ ⚠ same type
- DCAF8 p.Arg122Trp Uncertain significance ★★ ⚠ same type
- DCAF8 p.Asn343Ser Uncertain significance ★★ ⚠ same type
- DCAF8 p.Ser419Asn Uncertain significance ★★ ⚠ same type
- DCAF8 p.Ser576Pro Uncertain significance ★★ ⚠ same type
- DCAF8 p.Arg263= Benign ★★ same type
- DCAF8 p.Asp214= Likely benign ★★ same type
- DCAF8 p.Lys274= Benign/Likely benign ★★ 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/dcaf8-p-arg204 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown