ASPH p.His160=
c.480C>T · rs759403041 · VCV3058214
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0217%, amr)
Conditions
1
ASPH-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.29 | donor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.2 | GERP -4.5 |
| Overall | ||
| CADD | 12.48 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0217%
Admixed American · 13/59,906 alleles
Filtering AF
0.0128%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0101%
Overall
0.00477%
77/1,612,840 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0217% | 4,608 |
| European (non-Finnish) | 0.00483% | 20,691 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,812 |
| East Asian | 0.00447% | 22,393 |
| African / African-American | 0.00267% | 37,430 |
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
- ASPH
- Protein
- p.His160=
- Coding
- c.480C>T
- MANE Select
- NM_004318
- dbSNP
- rs759403041
- Type
- single nucleotide variant
- Location
- chr8:61651060 (GRCh38)
- Gene constraint
- LOEUF 1.011 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 72.34 · 43 PDB
Disease context
ASPH-related disorder
Similar variants
- ASPH p.Arg735Trp Likely pathogenic ★★ same condition
- ASPH p.Arg735Gln Likely pathogenic ★ same condition
- ASPH c.977-8T>C Likely benign same condition
- ASPH p.Asp194Asn Likely benign same condition
- ASPH p.Leu421= Likely benign same condition
- ASPH p.Pro121= Likely benign same condition
- ASPH p.Val214= Likely benign same condition
- ASPH p.Ile497fs Likely pathogenic ★ same condition
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/asph-p-his160 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown