DHX32 p.His110=
c.330C>T · VCV3628063
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00878%, sas)
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 -2.7 | GERP -1.6 |
| Overall | ||
| CADD | 9.152 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00878%
South Asian · 8/91,066 alleles
Filtering AF
0.00437%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00312%
Overall
0.00124%
20/1,614,130 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00878% | 11,383 |
| African / African-American | 0.008% | 12,507 |
| East Asian | 0.00446% | 22,438 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,506 |
| European (non-Finnish) | 0.000254% | 393,342 |
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
- DHX32
- Protein
- p.His110=
- Coding
- c.330C>T
- MANE Select
- NM_018180
- Type
- single nucleotide variant
- Location
- chr10:125867136 (GRCh38)
- Gene constraint
- LOEUF 0.919 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.34
- Residue 110
- the helicase atp-binding domain
Similar variants
- DHX32 p.Ala251Val Uncertain significance ★★ ⚠ same type
- DHX32 p.Ala93Thr Uncertain significance ★★ ⚠ same type
- DHX32 p.Arg129Gln Uncertain significance ★★ ⚠ same type
- DHX32 p.Arg261Cys Uncertain significance ★★ ⚠ same type
- DHX32 p.Arg261His Uncertain significance ★★ ⚠ same type
- DHX32 p.Asn239Lys Uncertain significance ★★ ⚠ same type
- DHX32 p.Asn297His Uncertain significance ★★ ⚠ same type
- DHX32 p.Asn297Ile 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/dhx32-p-his110 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown