DCAF17 p.Val27=
c.81G>C · rs781372214 · VCV2747605
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Woodhouse-Sakati syndrome
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 5.7 | GERP -0.03, phastCons 1 |
| Overall | ||
| CADD | 13.79 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DCAF17
- Protein
- p.Val27=
- Coding
- c.81G>C
- MANE Select
- NM_025000
- dbSNP
- rs781372214
- Type
- single nucleotide variant
- Location
- chr2:171434658 (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.Val27Gly Uncertain significance ★★ ⚠ same residue
- DCAF17 p.Val27Met Uncertain significance ★ ⚠ same residue
- DCAF17 c.127-1G>C Pathogenic/Likely pathogenic ★★ same condition
- DCAF17 p.Arg194Ter 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
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-val27 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown