DHX37 p.Phe423=
c.1269C>T · rs112583947 · VCV2038421
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.59%, nfe)
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 -0.26 | GERP -2.9 |
| Overall | ||
| CADD | 4.104 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.59%
European (non-Finnish) · 42,322/1,180,022 alleles
Filtering AF
3.56%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.55%
Overall
2.94%
47,445/1,614,080 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 3.59% | 28 |
| Remaining individualsnot grpmax-eligible | 2.86% | 35 |
| Admixed American | 1.39% | 72 |
| South Asian | 1.36% | 73 |
| Middle Eastern | 0.891% | 112 |
| Finnishnot grpmax-eligible | 0.868% | 115 |
| Ashkenazi Jewishnot grpmax-eligible | 0.838% | 119 |
| African / African-American | 0.533% | 188 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| East Asian | 0.00446% | 22,445 |
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.Phe423=
- Coding
- c.1269C>T
- MANE Select
- NM_032656
- dbSNP
- rs112583947
- Type
- single nucleotide variant
- Location
- chr12:124968891 (GRCh38)
- Gene constraint
- LOEUF 0.518 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 76.27 · 1 PDB
- Residue 423
- the helicase atp-binding domain
Similar variants
- 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
- DHX37 p.Arg1029Pro 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-phe423 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown