AGMO p.His276Pro
c.827A>C · VCV4024483
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3661 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
REVEL, SaProt · AlphaMissense no call
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3661 | ambiguous |
|---|---|---|
| REVEL | 0.23 | benign-leaning |
| SaProt | LLR -13.02 | damaging |
| ⇒ SaProt calls this damaging; REVEL does not; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 4.9 | GERP 1.2, phastCons 1 |
| Regional constraint | o/e 1.45 | unconstrained · MANE · 361 kb · p 3.8e-25 · regional, not allelic |
| Overall | ||
| CADD | 23.4 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- AGMO
- Protein
- p.His276Pro
- Coding
- c.827A>C
- MANE Select
- NM_001004320
- Type
- single nucleotide variant
- Location
- chr7:15387536 (GRCh38)
- Gene constraint
- LOEUF 1.561 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.90
Similar variants
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- AGMO p.Ile281Val Uncertain significance ★★ ⚠ same type
- AGMO p.Leu213Val Uncertain significance ★★ ⚠ same type
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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/agmo-p-his276pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown