DCAF8 p.Arg263=
c.789A>G · rs16831675 · VCV788288
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.79%, afr)
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 0.22 | GERP -1.2, phastCons 0.97 |
| Overall | ||
| CADD | 10.8 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.79%
African / African-American · 3,595/75,016 alleles
Filtering AF
4.66%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.61%
Overall
0.437%
7,048/1,613,772 alleles · low-frequency
exomes 4,629/1,461,448 · genomes 2,419/152,324 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.79% | 21 |
| East Asian | 3.84% | 26 |
| Admixed American | 1.91% | 52 |
| Remaining individualsnot grpmax-eligible | 0.501% | 200 |
| Middle Eastern | 0.462% | 216 |
| South Asian | 0.0758% | 1,319 |
| European (non-Finnish) | 0.0151% | 6,629 |
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.Arg263=
- Coding
- c.789A>G
- MANE Select
- NM_015726
- dbSNP
- rs16831675
- Type
- single nucleotide variant
- Location
- chr1:160238682 (GRCh38)
- Gene constraint
- LOEUF 0.466 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 74.60 · 2 PDB
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.Arg204= Benign/Likely 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-arg263 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown