DCAF8 p.Pro148=
c.444C>A · rs151050731 · VCV723462
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.173%, afr)
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 0.21 | GERP -5.1, phastCons 0.92 |
| Overall | ||
| CADD | 7.767 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.173%
African / African-American · 130/75,068 alleles
Filtering AF
0.149%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.14%
Overall
0.0114%
184/1,614,236 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.173% | 577 |
| Admixed American | 0.04% | 2,501 |
| Middle Eastern | 0.033% | 3,031 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,251 |
| European (non-Finnish) | 0.00144% | 69,415 |
| South Asian | 0.0011% | 91,082 |
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.Pro148=
- Coding
- c.444C>A
- MANE Select
- NM_015726
- dbSNP
- rs151050731
- Type
- single nucleotide variant
- Location
- chr1:160239976 (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-pro148 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown