DDX4 p.Ala448=
c.1344T>G · rs145819871 · VCV726743
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.03%, 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 -0.12 | GERP -0.97, phastCons 0.69 |
| Overall | ||
| CADD | 9.848 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.03%
African / African-American · 760/74,048 alleles
Filtering AF
0.966%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.942%
Overall
0.051%
815/1,597,380 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.03% | 97 |
| Remaining individualsnot grpmax-eligible | 0.0535% | 1,870 |
| Admixed American | 0.0357% | 2,802 |
| South Asian | 0.00113% | 88,754 |
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
- DDX4
- Protein
- p.Ala448=
- Coding
- c.1344T>G
- MANE Select
- NM_024415
- dbSNP
- rs145819871
- Type
- single nucleotide variant
- Location
- chr5:55792682 (GRCh38)
- Gene constraint
- LOEUF 0.34 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.06
- Residue 448
- the helicase atp-binding domain
Similar variants
- DDX4 c.1172+9A>G Benign ★★ same type
- DDX4 p.Lys472Glu Benign ★★ ⚠ same type
- DDX4 p.Ala304Val Uncertain significance ★ ⚠ same type
- DDX4 p.Ala385Val Uncertain significance ★ ⚠ same type
- DDX4 p.Ala493Val Uncertain significance ★ ⚠ same type
- DDX4 p.Ala511Val Uncertain significance ★ ⚠ same type
- DDX4 p.Arg111Lys Uncertain significance ★ ⚠ same type
- DDX4 p.Arg123Trp 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/ddx4-p-ala448 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown