DCAF8 p.Arg122=
c.366G>A · VCV4918186
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000169%, 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 0.8 | GERP -1.6, phastCons 1 |
| Overall | ||
| CADD | 10.81 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000169%
European (non-Finnish) · 2/1,180,036 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000124%
2/1,614,242 alleles · very rare
exomes 2/1,461,886 · genomes 0/152,356 · joint denominator
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.Arg122=
- Coding
- c.366G>A
- MANE Select
- NM_015726
- Type
- single nucleotide variant
- Location
- chr1:160240054 (GRCh38)
- Gene constraint
- LOEUF 0.466 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 74.60 · 2 PDB
- Residue 122
- the 'disordered' region
Similar variants
- DCAF8 p.Arg122Trp Uncertain significance ★★ ⚠ same residue
- DCAF8 p.Arg122Gln Uncertain significance ★ ⚠ same residue
- DCAF8 p.Arg117Cys 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
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-arg122 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown