DCAF6 p.Ala482Thr
c.1444G>A · rs1684896339 · VCV3080323
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.203 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.3, phastCons 1 |
| Regional constraint | o/e 0.88 | unconstrained · MANE · 63 kb · p 0.0024 · regional, not allelic |
| Overall | ||
| CADD | 25.4 | 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
- DCAF6
- Protein
- p.Ala482Thr
- Coding
- c.1444G>A
- MANE Select
- NM_001198956
- dbSNP
- rs1684896339
- Type
- single nucleotide variant
- Location
- chr1:168015846 (GRCh38)
- Gene constraint
- LOEUF 0.567 · pLI 0.06 (gnomAD)
- Structure
- AlphaFold pLDDT 64.23 · 1 PDB
- Residue 482
- the 'disordered' region
Similar variants
- DCAF6 p.Thr644Ile Benign ★★ same type
- ADCY10 c.292+6G>A Uncertain significance ★ same type
- ADCY10 p.Gln283His Uncertain significance ★ ⚠ same type
- ADCY10 p.Glu7Val Uncertain significance ★ ⚠ same type
- ADCY10 p.Met237Thr Uncertain significance ★ ⚠ same type
- ADCY10 p.Thr235Ser Uncertain significance ★ ⚠ same type
- ADCY10 p.Thr254Met Conflicting classifications of pathogenicity ★ ⚠ same type
- DCAF6 p.Ala295Val Uncertain significance ★ ⚠ 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/dcaf6-p-ala482thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown