DCAF17 p.Arg194Ter
c.580C>T · rs1470826074 · VCV804389
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 14 |
| REVEL | 0.102 | moderately benign-leaning |
| Splicing | ||
| SpliceAI | Δ0.50 | acceptor gain · deltas |
| Pangolin | Δ0.44 | gain · loss 0.41 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 4.7 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 44.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Finnishnot grpmax-eligible | 0.00156% | 63,906 |
| European (non-Finnish)grpmax | 0.000254% | 393,174 |
Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- DCAF17
- Protein
- p.Arg194Ter
- Coding
- c.580C>T
- MANE Select
- NM_025000
- dbSNP
- rs1470826074
- Type
- single nucleotide variant
- Location
- chr2:171453166 (GRCh38)
- Gene constraint
- LOEUF 0.855 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.38
Disease context
Woodhouse-Sakati syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Woodhouse-Sakati syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Childhood
Similar variants
- DCAF17 p.Arg194Gln Uncertain significance ★★ ⚠ same residue
- DCAF17 p.Arg194fs Pathogenic ★ same residue
- DCAF17 c.127-1G>C Pathogenic/Likely pathogenic ★★ same condition
- DCAF17 p.Met1Val Pathogenic/Likely pathogenic ★★ same condition
- DCAF17 p.Trp129Ter Pathogenic ★★ same condition
- DCAF17 p.Trp302Ter Pathogenic ★★ same condition
- DCAF17 c.1266+4T>C Uncertain significance ★★ same condition
- DCAF17 c.*126A>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/dcaf17-p-arg194ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown