ELOB p.Pro100=
c.300C>T · VCV4017638
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00769%, 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 -12 | GERP -3.1 |
| Overall | ||
| CADD | 0.116 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00769%
South Asian · 7/90,988 alleles
Filtering AF
0.00359%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00255%
Overall
0.00149%
24/1,613,184 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00769% | 12,998 |
| East Asian | 0.00669% | 14,945 |
| African / African-American | 0.00533% | 18,744 |
| Admixed American | 0.00334% | 29,941 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,228 |
| European (non-Finnish) | 0.000509% | 196,591 |
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
- ELOB
- Protein
- p.Pro100=
- Coding
- c.300C>T
- MANE Select
- NM_007108
- Type
- single nucleotide variant
- Location
- chr16:2772047 (GRCh38)
- Gene constraint
- LOEUF 0.788 · pLI 0.62 (gnomAD)
- Structure
- AlphaFold pLDDT 93.01 · 231 PDB
- Residue 100
- the 'disordered' region; an α-helix
Similar variants
- ELOB c.*397A>G Uncertain significance ★ same type
- ELOB c.*402C>A Uncertain significance ★ same type
- ELOB c.*405A>G Uncertain significance ★ same type
- ELOB c.*406C>T Uncertain significance ★ same type
- ELOB c.*408A>G Uncertain significance ★ same type
- ELOB c.*412C>T Uncertain significance ★ same type
- ELOB c.*427C>A Uncertain significance ★ same type
- ELOB c.*447G>C 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/elob-p-pro100 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown