OGFOD1 p.Pro528=
c.1584A>C · rs61745416 · VCV3024873
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.77%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.71 | GERP -0.91, phastCons 0.087 |
| Overall | ||
| CADD | 8.731 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.77%
Middle Eastern · 98/5,530 alleles
Filtering AF
1.49%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.38%
Overall
1.11%
17,844/1,613,410 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 1.77% | 56 |
| Ashkenazi Jewishnot grpmax-eligible | 1.32% | 76 |
| European (non-Finnish) | 1.3% | 77 |
| Admixed American | 1.06% | 95 |
| Remaining individualsnot grpmax-eligible | 1.04% | 96 |
| South Asian | 0.442% | 226 |
| Finnishnot grpmax-eligible | 0.38% | 263 |
| African / African-American | 0.192% | 521 |
| East Asian | 0.00223% | 44,856 |
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
- OGFOD1
- Protein
- p.Pro528=
- Coding
- c.1584A>C
- MANE Select
- NM_031885 · reported on NM_018233
- dbSNP
- rs61745416
- Type
- single nucleotide variant
- Location
- chr16:56476160 (GRCh38)
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/ogfod1-p-pro528 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown