DDX18 p.Phe620=
c.1860C>T · rs34228045 · VCV717174
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.21%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.26 | GERP -0.51, phastCons 1 |
| Overall | ||
| CADD | 8.517 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.21%
African / African-American · 905/74,604 alleles
Filtering AF
1.15%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.12%
Overall
0.0684%
1,101/1,608,920 alleles · low-frequency
exomes 549/1,456,660 · genomes 552/152,260 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.21% | 82 |
| Admixed American | 0.169% | 592 |
| Remaining individualsnot grpmax-eligible | 0.0882% | 1,133 |
| Ashkenazi Jewishnot grpmax-eligible | 0.034% | 2,940 |
| Middle Eastern | 0.0332% | 3,010 |
| European (non-Finnish) | 0.00238% | 42,095 |
| South Asian | 0.00223% | 44,806 |
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
- DDX18
- Protein
- p.Phe620=
- Coding
- c.1860C>T
- MANE Select
- NM_006773
- dbSNP
- rs34228045
- Type
- single nucleotide variant
- Location
- chr2:117829456 (GRCh38)
- Gene constraint
- LOEUF 0.496 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 73.34 · 12 PDB
- Residue 620
- an α-helix
Similar variants
- DDX18 p.Ala517= Benign ★★ same type
- DDX18 p.Cys183Tyr Benign ★★ same type
- DDX18 p.Glu142Lys Benign ★★ same type
- DDX18 p.Val371Ile Benign ★★ same type
- DDX18 p.Ala121Val Uncertain significance ★ ⚠ same type
- DDX18 p.Ala180Gly Uncertain significance ★ ⚠ same type
- DDX18 p.Ala237Thr Uncertain significance ★ ⚠ same type
- DDX18 p.Ala30Ser 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/ddx18-p-phe620 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown