DCAF8 p.Ile411=
c.1233T>C · rs142352428 · VCV806253
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00949%, nfe)
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 9.4 | GERP 1.5, phastCons 1 |
| Overall | ||
| CADD | 11.38 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00949%
European (non-Finnish) · 112/1,179,896 alleles
Filtering AF
0.00804%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00752%
Overall
0.00744%
120/1,613,900 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00949% | 10,535 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,620 |
| African / African-American | 0.004% | 24,975 |
| Admixed American | 0.00167% | 60,002 |
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.Ile411=
- Coding
- c.1233T>C
- MANE Select
- NM_015726
- dbSNP
- rs142352428
- Type
- single nucleotide variant
- Location
- chr1:160224518 (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-ile411 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown