MTTP p.Asn442=
c.1326T>C · rs2110225446 · VCV1563316
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
abetalipoproteinemia
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 -13 | GERP -3.5 |
| Overall | ||
| CADD | 0.213 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- MTTP
- Protein
- p.Asn442=
- Coding
- c.1326T>C
- MANE Select
- NM_001386140
- dbSNP
- rs2110225446
- Type
- single nucleotide variant
- Location
- chr4:99601696 (GRCh38)
- Gene constraint
- LOEUF 0.672 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 86.73 · 2 PDB
- Residue 442
- the vitellogenin domain; a turn
Disease context
abetalipoproteinemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Abetalipoproteinemia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy
- Prevalence
- <1 / 1 000 000 (Worldwide)
Similar variants
- MTTP p.Asn442Ser Uncertain significance ★★ ⚠ same residue
- MTTP c.1067+1G>C Likely pathogenic ★★ same condition
- MTTP c.1769+2T>C Pathogenic/Likely pathogenic ★★ same condition
- MTTP c.1867+1G>A Pathogenic ★★ same condition
- MTTP c.1867+5G>A Pathogenic/Likely pathogenic ★★ same condition
- MTTP c.1868-2A>G Likely pathogenic ★★ same condition
- MTTP c.2342+1G>A Pathogenic ★★ same condition
- MTTP c.502-1G>C 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/mttp-p-asn442 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown