DCAF8 p.Asp259=
c.777C>T · rs150783109 · VCV757088
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0268%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.61 | GERP -5.7 |
| Overall | ||
| CADD | 6.702 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0268%
East Asian · 12/44,846 alleles
Filtering AF
0.0154%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0121%
Overall
0.00291%
47/1,613,750 alleles · ultra-rare
exomes 36/1,461,412 · genomes 11/152,338 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0268% | 3,737 |
| African / African-American | 0.0173% | 5,772 |
| South Asian | 0.011% | 9,098 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,241 |
| Admixed American | 0.00167% | 59,960 |
| European (non-Finnish) | 0.000763% | 131,097 |
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.Asp259=
- Coding
- c.777C>T
- MANE Select
- NM_015726
- dbSNP
- rs150783109
- Type
- single nucleotide variant
- Location
- chr1:160238694 (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.Arg263= Benign ★★ same type
- DCAF8 p.Asp214= 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-asp259 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown