DCAF4L2 p.Arg47=
c.141C>T · rs142584363 · VCV3034326
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.726%, afr)
Conditions
1
DCAF4L2-related disorder
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 -4 | GERP -3.8 |
| Overall | ||
| CADD | 4.826 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.726%
African / African-American · 545/75,024 alleles
Filtering AF
0.676%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.656%
Overall
0.0426%
688/1,614,134 alleles · rare
exomes 337/1,461,892 · genomes 351/152,242 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.726% | 138 |
| Admixed American | 0.128% | 780 |
| Middle Eastern | 0.099% | 1,010 |
| Remaining individualsnot grpmax-eligible | 0.0656% | 1,525 |
| South Asian | 0.0022% | 45,544 |
| European (non-Finnish) | 0.00144% | 69,414 |
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
- DCAF4L2
- Protein
- p.Arg47=
- Coding
- c.141C>T
- MANE Select
- NM_152418
- dbSNP
- rs142584363
- Type
- single nucleotide variant
- Location
- chr8:87873831 (GRCh38)
- Gene constraint
- LOEUF 1.096 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.17
Disease context
DCAF4L2-related disorder
Similar variants
- DCAF4L2 p.Asn212= Likely benign same condition
- DCAF4L2 p.Asn313Ser Benign same condition
- DCAF4L2 p.Asn361= Likely benign same condition
- DCAF4L2 p.Cys336= Likely benign same condition
- DCAF4L2 p.Gly22= Likely benign same condition
- DCAF4L2 p.Gly282= Likely benign same condition
- DCAF4L2 p.Leu276= Likely benign same condition
- DCAF4L2 p.Phe146= Benign 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/dcaf4l2-p-arg47 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown