DHX37 p.Pro428=
c.1284G>A · rs116091014 · VCV2039131
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.48%, 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 -20 | GERP -3.2 |
| Overall | ||
| CADD | 0.008 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.48%
African / African-American · 1,112/75,062 alleles
Filtering AF
1.41%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.38%
Overall
0.077%
1,243/1,614,040 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.48% | 68 |
| Remaining individualsnot grpmax-eligible | 0.088% | 1,136 |
| Admixed American | 0.075% | 1,334 |
| Middle Eastern | 0.0495% | 2,021 |
| European (non-Finnish) | 0.00229% | 43,704 |
| South Asian | 0.0011% | 91,080 |
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
- DHX37
- Protein
- p.Pro428=
- Coding
- c.1284G>A
- MANE Select
- NM_032656
- dbSNP
- rs116091014
- Type
- single nucleotide variant
- Location
- chr12:124968876 (GRCh38)
- Gene constraint
- LOEUF 0.518 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 76.27 · 1 PDB
- Residue 428
- the helicase atp-binding domain; an α-helix
Similar variants
- DHX37 p.Pro428Leu Uncertain significance ★★ ⚠ same residue
- DHX37 p.Arg308Gln Pathogenic ★★ same type
- DHX37 p.Arg674Trp Likely pathogenic ★★ same type
- DHX37 p.Ala1142Gly Uncertain significance ★★ ⚠ same type
- DHX37 p.Ala469Ser Uncertain significance ★★ ⚠ same type
- DHX37 p.Ala687Val Uncertain significance ★★ ⚠ same type
- DHX37 p.Ala743Thr Uncertain significance ★★ ⚠ same type
- DHX37 p.Ala864Ser 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/dhx37-p-pro428 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown